Allele Registry

Canonical Allele Identifier: PA113452

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000037834

RCV000146014

RCV000211719

RCV000515247

RCV000516830

RCV001257560

RCV002228125

ClinVar Variation:

44735

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Val95Met	CA172220 NM_004004.6:c.283G>A