Allele Registry

Canonical Allele Identifier: PA113127

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000022511

RCV000146024

RCV000480903

RCV000678889

RCV000826191

RCV001001450

RCV002281716

RCV003236759

ClinVar Variation:

29662

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Arg184Gln	CA172235 NM_004004.6:c.551G>A