Allele Registry

Canonical Allele Identifier: PA113160

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000018554

RCV000018555

RCV000210858

RCV000211764

RCV000254728

RCV001257038

RCV001291331

ClinVar Variation:

17027

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Arg75Gln	CA127030 NM_004004.6:c.224G>A