SNP Links for Protein (Select 213417634) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 124

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Select item 14891311961.

rs1489131196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:138857522 (GRCh38)
X:137939684 (GRCh37)
Canonical SPDI:: NC_000023.11:138857521:T:C
Gene:: FGF13 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.138857522T>C, NC_000023.10:g.137939684T>C, NM_001139501.2:c.120A>G, NM_001139501.1:c.120A>G, NM_001139500.2:c.207A>G, NM_001139500.1:c.207A>G, NM_001139502.2:c.120A>G, NM_001139502.1:c.120A>G

Select item 14831094162.

rs1483109416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:138857591 (GRCh38)
X:137939753 (GRCh37)
Canonical SPDI:: NC_000023.11:138857590:G:A
Gene:: FGF13 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.138857591G>A, NC_000023.10:g.137939753G>A, NM_001139501.2:c.51C>T, NM_001139501.1:c.51C>T, NM_001139500.2:c.138C>T, NM_001139500.1:c.138C>T, NM_001139502.2:c.51C>T, NM_001139502.1:c.51C>T

Select item 14808656733.

rs1480865673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:138708862 (GRCh38)
X:137791024 (GRCh37)
Canonical SPDI:: NC_000023.11:138708861:G:A
Gene:: FGF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.138708862G>A, NC_000023.10:g.137791024G>A, NM_004114.5:c.254C>T, NM_004114.4:c.254C>T, NM_004114.3:c.254C>T, NM_033642.3:c.95C>T, NM_033642.2:c.95C>T, NM_001139501.2:c.197C>T, NM_001139501.1:c.197C>T, NM_001139500.2:c.284C>T, NM_001139500.1:c.284C>T, NM_001139498.2:c.116C>T, NM_001139498.1:c.116C>T, NM_001139502.2:c.197C>T, NM_001139502.1:c.197C>T, NP_004105.1:p.Ala85Val, NP_378668.1:p.Ala32Val, NP_001132973.1:p.Ala66Val, NP_001132972.1:p.Ala95Val, NP_001132970.1:p.Ala39Val, NP_001132974.1:p.Ala66Val

Select item 14780331804.

rs1478033180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:138632939 (GRCh38)
X:137715100 (GRCh37)
Canonical SPDI:: NC_000023.11:138632938:G:A
Gene:: FGF13 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.138632939G>A, NC_000023.10:g.137715100G>A, NM_004114.5:c.649C>T, NM_004114.4:c.649C>T, NM_004114.3:c.649C>T, NM_033642.3:c.490C>T, NM_033642.2:c.490C>T, NM_001139501.2:c.592C>T, NM_001139501.1:c.592C>T, NM_001139500.2:c.679C>T, NM_001139500.1:c.679C>T, NM_001139498.2:c.511C>T, NM_001139498.1:c.511C>T, NM_001139502.2:c.592C>T, NM_001139502.1:c.592C>T, NP_004105.1:p.Arg217Ter, NP_378668.1:p.Arg164Ter, NP_001132973.1:p.Arg198Ter, NP_001132972.1:p.Arg227Ter, NP_001132970.1:p.Arg171Ter, NP_001132974.1:p.Arg198Ter

Select item 14773766215.

rs1477376621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:138635576 (GRCh38)
X:137717737 (GRCh37)
Canonical SPDI:: NC_000023.11:138635575:C:T
Gene:: FGF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.138635576C>T, NC_000023.10:g.137717737C>T, NM_004114.5:c.482G>A, NM_004114.4:c.482G>A, NM_004114.3:c.482G>A, NM_033642.3:c.323G>A, NM_033642.2:c.323G>A, NM_001139501.2:c.425G>A, NM_001139501.1:c.425G>A, NM_001139500.2:c.512G>A, NM_001139500.1:c.512G>A, NM_001139498.2:c.344G>A, NM_001139498.1:c.344G>A, NM_001139502.2:c.425G>A, NM_001139502.1:c.425G>A, NP_004105.1:p.Arg161His, NP_378668.1:p.Arg108His, NP_001132973.1:p.Arg142His, NP_001132972.1:p.Arg171His, NP_001132970.1:p.Arg115His, NP_001132974.1:p.Arg142His

Select item 14684636156.

rs1468463615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:138857624 (GRCh38)
X:137939786 (GRCh37)
Canonical SPDI:: NC_000023.11:138857623:G:A
Gene:: FGF13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.138857624G>A, NC_000023.10:g.137939786G>A, NM_001139501.2:c.18C>T, NM_001139501.1:c.18C>T, NM_001139500.2:c.105C>T, NM_001139500.1:c.105C>T, NM_001139502.2:c.18C>T, NM_001139502.1:c.18C>T

Select item 14314901447.

rs1431490144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:138857524 (GRCh38)
X:137939686 (GRCh37)
Canonical SPDI:: NC_000023.11:138857523:T:C
Gene:: FGF13 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.138857524T>C, NC_000023.10:g.137939686T>C, NM_001139501.2:c.118A>G, NM_001139501.1:c.118A>G, NM_001139500.2:c.205A>G, NM_001139500.1:c.205A>G, NM_001139502.2:c.118A>G, NM_001139502.1:c.118A>G, NP_001132973.1:p.Thr40Ala, NP_001132972.1:p.Thr69Ala, NP_001132974.1:p.Thr40Ala

Select item 14275110388.

rs1427511038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:138857604 (GRCh38)
X:137939766 (GRCh37)
Canonical SPDI:: NC_000023.11:138857603:T:C
Gene:: FGF13 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.138857604T>C, NC_000023.10:g.137939766T>C, NM_001139501.2:c.38A>G, NM_001139501.1:c.38A>G, NM_001139500.2:c.125A>G, NM_001139500.1:c.125A>G, NM_001139502.2:c.38A>G, NM_001139502.1:c.38A>G, NP_001132973.1:p.Lys13Arg, NP_001132972.1:p.Lys42Arg, NP_001132974.1:p.Lys13Arg

Select item 14271307119.

rs1427130711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:138635585 (GRCh38)
X:137717746 (GRCh37)
Canonical SPDI:: NC_000023.11:138635584:A:G
Gene:: FGF13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.138635585A>G, NC_000023.10:g.137717746A>G, NM_004114.5:c.473T>C, NM_004114.4:c.473T>C, NM_004114.3:c.473T>C, NM_033642.3:c.314T>C, NM_033642.2:c.314T>C, NM_001139501.2:c.416T>C, NM_001139501.1:c.416T>C, NM_001139500.2:c.503T>C, NM_001139500.1:c.503T>C, NM_001139498.2:c.335T>C, NM_001139498.1:c.335T>C, NM_001139502.2:c.416T>C, NM_001139502.1:c.416T>C, NP_004105.1:p.Met158Thr, NP_378668.1:p.Met105Thr, NP_001132973.1:p.Met139Thr, NP_001132972.1:p.Met168Thr, NP_001132970.1:p.Met112Thr, NP_001132974.1:p.Met139Thr

Select item 142657662910.

rs1426576629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:138635521 (GRCh38)
X:137717682 (GRCh37)
Canonical SPDI:: NC_000023.11:138635520:G:A
Gene:: FGF13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.138635521G>A, NC_000023.10:g.137717682G>A, NM_004114.5:c.537C>T, NM_004114.4:c.537C>T, NM_004114.3:c.537C>T, NM_033642.3:c.378C>T, NM_033642.2:c.378C>T, NM_001139501.2:c.480C>T, NM_001139501.1:c.480C>T, NM_001139500.2:c.567C>T, NM_001139500.1:c.567C>T, NM_001139498.2:c.399C>T, NM_001139498.1:c.399C>T, NM_001139502.2:c.480C>T, NM_001139502.1:c.480C>T

Select item 141071732011.

rs1410717320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:138632986 (GRCh38)
X:137715147 (GRCh37)
Canonical SPDI:: NC_000023.11:138632985:A:G
Gene:: FGF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.138632986A>G, NC_000023.10:g.137715147A>G, NM_004114.5:c.602T>C, NM_004114.4:c.602T>C, NM_004114.3:c.602T>C, NM_033642.3:c.443T>C, NM_033642.2:c.443T>C, NM_001139501.2:c.545T>C, NM_001139501.1:c.545T>C, NM_001139500.2:c.632T>C, NM_001139500.1:c.632T>C, NM_001139498.2:c.464T>C, NM_001139498.1:c.464T>C, NM_001139502.2:c.545T>C, NM_001139502.1:c.545T>C, NP_004105.1:p.Val201Ala, NP_378668.1:p.Val148Ala, NP_001132973.1:p.Val182Ala, NP_001132972.1:p.Val211Ala, NP_001132970.1:p.Val155Ala, NP_001132974.1:p.Val182Ala

Select item 141057148112.

rs1410571481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:138857626 (GRCh38)
X:137939788 (GRCh37)
Canonical SPDI:: NC_000023.11:138857625:A:G,NC_000023.11:138857625:A:T
Gene:: FGF13 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.138857626A>G, NC_000023.11:g.138857626A>T, NC_000023.10:g.137939788A>G, NC_000023.10:g.137939788A>T, NM_001139501.2:c.16T>C, NM_001139501.2:c.16T>A, NM_001139501.1:c.16T>C, NM_001139501.1:c.16T>A, NM_001139500.2:c.103T>C, NM_001139500.2:c.103T>A, NM_001139500.1:c.103T>C, NM_001139500.1:c.103T>A, NM_001139502.2:c.16T>C, NM_001139502.2:c.16T>A, NM_001139502.1:c.16T>C, NM_001139502.1:c.16T>A, NP_001132973.1:p.Ser6Pro, NP_001132973.1:p.Ser6Thr, NP_001132972.1:p.Ser35Pro, NP_001132972.1:p.Ser35Thr, NP_001132974.1:p.Ser6Pro, NP_001132974.1:p.Ser6Thr

Select item 140882139713.

rs1408821397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:138708925 (GRCh38)
X:137791087 (GRCh37)
Canonical SPDI:: NC_000023.11:138708924:G:A
Gene:: FGF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.138708925G>A, NC_000023.10:g.137791087G>A, NM_004114.5:c.191C>T, NM_004114.4:c.191C>T, NM_004114.3:c.191C>T, NM_033642.3:c.32C>T, NM_033642.2:c.32C>T, NM_001139501.2:c.134C>T, NM_001139501.1:c.134C>T, NM_001139500.2:c.221C>T, NM_001139500.1:c.221C>T, NM_001139498.2:c.53C>T, NM_001139498.1:c.53C>T, NM_001139502.2:c.134C>T, NM_001139502.1:c.134C>T, NP_004105.1:p.Pro64Leu, NP_378668.1:p.Pro11Leu, NP_001132973.1:p.Pro45Leu, NP_001132972.1:p.Pro74Leu, NP_001132970.1:p.Pro18Leu, NP_001132974.1:p.Pro45Leu

Select item 140802671614.

rs1408026716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:138635629 (GRCh38)
X:137717790 (GRCh37)
Canonical SPDI:: NC_000023.11:138635628:G:C
Gene:: FGF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.138635629G>C, NC_000023.10:g.137717790G>C, NM_004114.5:c.429C>G, NM_004114.4:c.429C>G, NM_004114.3:c.429C>G, NM_033642.3:c.270C>G, NM_033642.2:c.270C>G, NM_001139501.2:c.372C>G, NM_001139501.1:c.372C>G, NM_001139500.2:c.459C>G, NM_001139500.1:c.459C>G, NM_001139498.2:c.291C>G, NM_001139498.1:c.291C>G, NM_001139502.2:c.372C>G, NM_001139502.1:c.372C>G, NP_004105.1:p.Phe143Leu, NP_378668.1:p.Phe90Leu, NP_001132973.1:p.Phe124Leu, NP_001132972.1:p.Phe153Leu, NP_001132970.1:p.Phe97Leu, NP_001132974.1:p.Phe124Leu

Select item 137651157115.

rs1376511571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:138703017 (GRCh38)
X:137785179 (GRCh37)
Canonical SPDI:: NC_000023.11:138703016:C:A
Gene:: FGF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.138703017C>A, NC_000023.10:g.137785179C>A, NM_004114.5:c.369G>T, NM_004114.4:c.369G>T, NM_004114.3:c.369G>T, NM_033642.3:c.210G>T, NM_033642.2:c.210G>T, NM_001139501.2:c.312G>T, NM_001139501.1:c.312G>T, NM_001139500.2:c.399G>T, NM_001139500.1:c.399G>T, NM_001139498.2:c.231G>T, NM_001139498.1:c.231G>T, NM_001139502.2:c.312G>T, NM_001139502.1:c.312G>T, NP_004105.1:p.Leu123Phe, NP_378668.1:p.Leu70Phe, NP_001132973.1:p.Leu104Phe, NP_001132972.1:p.Leu133Phe, NP_001132970.1:p.Leu77Phe, NP_001132974.1:p.Leu104Phe

Select item 137048513416.

rs1370485134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:138632885 (GRCh38)
X:137715046 (GRCh37)
Canonical SPDI:: NC_000023.11:138632884:C:T
Gene:: FGF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.138632885C>T, NC_000023.10:g.137715046C>T, NM_004114.5:c.703G>A, NM_004114.4:c.703G>A, NM_004114.3:c.703G>A, NM_033642.3:c.544G>A, NM_033642.2:c.544G>A, NM_001139501.2:c.646G>A, NM_001139501.1:c.646G>A, NM_001139500.2:c.733G>A, NM_001139500.1:c.733G>A, NM_001139498.2:c.565G>A, NM_001139498.1:c.565G>A, NM_001139502.2:c.646G>A, NM_001139502.1:c.646G>A, NP_004105.1:p.Gly235Arg, NP_378668.1:p.Gly182Arg, NP_001132973.1:p.Gly216Arg, NP_001132972.1:p.Gly245Arg, NP_001132970.1:p.Gly189Arg, NP_001132974.1:p.Gly216Arg

Select item 136152264517.

rs1361522645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:138632881 (GRCh38)
X:137715042 (GRCh37)
Canonical SPDI:: NC_000023.11:138632880:C:T
Gene:: FGF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.138632881C>T, NC_000023.10:g.137715042C>T, NM_004114.5:c.707G>A, NM_004114.4:c.707G>A, NM_004114.3:c.707G>A, NM_033642.3:c.548G>A, NM_033642.2:c.548G>A, NM_001139501.2:c.650G>A, NM_001139501.1:c.650G>A, NM_001139500.2:c.737G>A, NM_001139500.1:c.737G>A, NM_001139498.2:c.569G>A, NM_001139498.1:c.569G>A, NM_001139502.2:c.650G>A, NM_001139502.1:c.650G>A, NP_004105.1:p.Gly236Asp, NP_378668.1:p.Gly183Asp, NP_001132973.1:p.Gly217Asp, NP_001132972.1:p.Gly246Asp, NP_001132970.1:p.Gly190Asp, NP_001132974.1:p.Gly217Asp

Select item 134823374418.

rs1348233744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:138703046 (GRCh38)
X:137785208 (GRCh37)
Canonical SPDI:: NC_000023.11:138703045:T:G
Gene:: FGF13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.138703046T>G, NC_000023.10:g.137785208T>G, NM_004114.5:c.340A>C, NM_004114.4:c.340A>C, NM_004114.3:c.340A>C, NM_033642.3:c.181A>C, NM_033642.2:c.181A>C, NM_001139501.2:c.283A>C, NM_001139501.1:c.283A>C, NM_001139500.2:c.370A>C, NM_001139500.1:c.370A>C, NM_001139498.2:c.202A>C, NM_001139498.1:c.202A>C, NM_001139502.2:c.283A>C, NM_001139502.1:c.283A>C, NP_004105.1:p.Ile114Leu, NP_378668.1:p.Ile61Leu, NP_001132973.1:p.Ile95Leu, NP_001132972.1:p.Ile124Leu, NP_001132970.1:p.Ile68Leu, NP_001132974.1:p.Ile95Leu

Select item 133096738619.

rs1330967386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:138857628 (GRCh38)
X:137939790 (GRCh37)
Canonical SPDI:: NC_000023.11:138857627:T:A
Gene:: FGF13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.138857628T>A, NC_000023.10:g.137939790T>A, NM_001139501.2:c.14A>T, NM_001139501.1:c.14A>T, NM_001139500.2:c.101A>T, NM_001139500.1:c.101A>T, NM_001139502.2:c.14A>T, NM_001139502.1:c.14A>T, NP_001132973.1:p.Asp5Val, NP_001132972.1:p.Asp34Val, NP_001132974.1:p.Asp5Val

Select item 132991342720.

rs1329913427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:138857635 (GRCh38)
X:137939797 (GRCh37)
Canonical SPDI:: NC_000023.11:138857634:G:A
Gene:: FGF13 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.138857635G>A, NC_000023.10:g.137939797G>A, NM_001139501.2:c.7C>T, NM_001139501.1:c.7C>T, NM_001139500.2:c.94C>T, NM_001139500.1:c.94C>T, NM_001139502.2:c.7C>T, NM_001139502.1:c.7C>T, NP_001132973.1:p.Arg3Ter, NP_001132972.1:p.Arg32Ter, NP_001132974.1:p.Arg3Ter

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