Allele Registry

Canonical Allele Identifier: PA113440

Gene: GJB2 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000018560

RCV000146012

RCV000169112

RCV000211770

RCV000505951

RCV000790715

RCV001041795

RCV001257042

RCV002504805

RCV003335046

ClinVar Variation:

17032

167134

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Val84Leu	CA172218 NM_004004.6:c.250G>C CA234087 NM_004004.6:c.250G>T