Allele Registry

Canonical Allele Identifier: PA658663760

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000558127

RCV000789820

RCV002350395

RCV002483509

ClinVar Variation:

477602

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Val189Ile	CA10445316 NM_001097642.3:c.565G>A