Allele Registry

Canonical Allele Identifier: PA273920

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000169070

RCV001207124

RCV001257041

RCV004528922

ClinVar Variation:

188756

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Ile82Met	CA273919 NM_004004.6:c.246C>G