Allele Registry

Canonical Allele Identifier: PA275059

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000175537

RCV000461635

RCV001249761

ClinVar Variation:

195025

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Val91Met	CA275057 NM_001097642.3:c.271G>A