Allele Registry

Canonical Allele Identifier: PA112692

Gene: GJB3 HGNC NCBI

ClinVar RCV:

RCV000006858

RCV000175942

RCV000377207

RCV000724272

ClinVar Variation:

6485

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005752.1:p.Glu183Lys	CA241798 NM_001005752.2:c.547G>A