Allele Registry

Canonical Allele Identifier: PA2825278167

Gene: GJB3 HGNC NCBI

ClinVar RCV:

RCV000490186

ClinVar Variation:

426999

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005752.1:p.Glu100Lys	CA20571397 NM_001005752.2:c.298G>A