Allele Registry

Canonical Allele Identifier: PA273922

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000169075

RCV000614720

RCV000724651

RCV001001448

ClinVar Variation:

188758

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Arg32Cys	CA273921 NM_004004.6:c.94C>T