Allele Registry

Canonical Allele Identifier: PA113250

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000037849

RCV000730888

RCV001089545

RCV001257047

ClinVar Variation:

44747

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Glu129Lys	CA134970 NM_004004.6:c.385G>A