Allele Registry

Canonical Allele Identifier: PA113137

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000018531

RCV000211781

RCV000657913

RCV000678888

RCV000763321

RCV001112462

RCV001257160

RCV003992158

ClinVar Variation:

17007

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Arg184Pro	CA341438 NM_004004.6:c.551G>C