Allele Registry

Canonical Allele Identifier: PA113169

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000018535

RCV000211763

RCV001257037

RCV001291330

RCV001799506

RCV001811187

ClinVar Variation:

17011

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Arg75Trp	CA257676 NM_004004.6:c.223C>T