Allele Registry

Canonical Allele Identifier: PA2825278155

Gene: GJB3 HGNC NCBI

ClinVar Allele:

707362

ClinVar RCV:

RCV000968824

RCV001101937

RCV002503056

ClinVar Variation:

786722

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005752.1:p.Val84Ile	CA754785 NM_001005752.2:c.250G>A