Allele Registry

Canonical Allele Identifier: PA113112

Gene: GJB2 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

32048

ClinVar RCV:

RCV000018533

RCV000146023

RCV000211779

RCV000255157

RCV000515418

RCV000678885

RCV001027826

RCV001196233

RCV001257564

RCV002286400

RCV004532385

ClinVar Variation:

17009

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Arg143Trp	CA172234 NM_004004.6:c.427C>T