Allele Registry

Canonical Allele Identifier: PA645431115

Gene: GJB1 HGNC NCBI

ClinVar Allele:

404290

ClinVar RCV:

RCV000467465

RCV000789955

RCV003401459

ClinVar Variation:

406224

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Met34Thr	CA16616534 NM_001097642.3:c.101T>C