Allele Registry

Canonical Allele Identifier: PA341608

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000020175

RCV000220506

RCV000789199

ClinVar Variation:

21085

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Cys179Tyr	CA341605 NM_001097642.3:c.536G>A