Allele Registry

Canonical Allele Identifier: PA274136

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000169292

ClinVar Variation:

188925

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Ala40Gly	CA274135 NM_004004.6:c.119C>G