Allele Registry

Canonical Allele Identifier: PA658802695

Gene: GJB1 HGNC NCBI

ClinVar Allele:

535194

ClinVar RCV:

RCV000654841

RCV000789839

RCV001310733

RCV001814206

RCV002289943

RCV002343392

ClinVar Variation:

543920

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Arg164Gln	CA413502758 NM_001097642.3:c.491G>A