Allele Registry

Canonical Allele Identifier: PA658654066

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000512762

ClinVar Variation:

444867

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Ser17Cys	CA413499562 NM_001097642.3:c.50C>G