Allele Registry

Canonical Allele Identifier: PA172229

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000020570

RCV000146020

RCV000211720

RCV000412324

RCV000711351

RCV001257034

RCV002286405

RCV002504816

ClinVar Variation:

21387

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Gly12Val	CA172228 NM_004004.6:c.35G>T