Canonical Allele Identifier: PA915971619
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637194
ClinVar RCV Id: RCV000789258
ClinVar Variation Id: 2016455
ClinVar RCV Id: RCV002843908
ClinVar Variation Id: 2030048
ClinVar RCV Id: RCV002881128
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Ser62Arg
CA413501331
NM_001097642.3:c.184A>C
CA413501341
NM_001097642.3:c.186C>G
CA413501343
NM_001097642.3:c.186C>A