Allele Registry

Canonical Allele Identifier: PA255237

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000011179

ClinVar Variation:

10434

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Trp133Arg	CA255235 NM_001097642.3:c.397T>C CA413502175 NM_001097642.3:c.397T>A