Allele Registry

Canonical Allele Identifier: PA658663691

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000516283

RCV000552811

RCV000789233

ClinVar Variation:

447428

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Leu89Pro	CA413501709 NM_001097642.3:c.266T>C