Allele Registry

Canonical Allele Identifier: PA270923

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000144863

RCV000213596

RCV000551749

RCV002362778

RCV002483279

ClinVar Variation:

157521

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Arg230Cys	CA270921 NM_001097642.3:c.688C>T