Allele Registry

Canonical Allele Identifier: PA113187

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000018551

RCV000991848

RCV002222355

RCV002504804

ClinVar Variation:

17024

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Asp159Val	CA257680 NM_004004.6:c.476A>T