Allele Registry

Canonical Allele Identifier: PA172207

Gene: GJB2 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000018523

RCV000080364

RCV000211758

RCV000487479

RCV000678866

RCV000844701

RCV001004397

RCV001027827

RCV001266565

RCV001270137

RCV001375142

RCV002251910

RCV003322590

ClinVar Variation:

17000

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Met34Thr	CA172206 NM_004004.6:c.101T>C