Canonical Allele Identifier: PA255250
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10438
ClinVar RCV Id: RCV001245963 RCV001659691 RCV000011183
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Tyr65Cys
CA255248
NM_001097642.3:c.194A>G