Allele Registry

Canonical Allele Identifier: PA134982

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000020573

RCV000037860

RCV001092709

RCV001257048

RCV001375209

RCV001787816

ClinVar Variation:

21388

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Met163Val	CA134981 NM_004004.6:c.487A>G