Allele Registry

Canonical Allele Identifier: PA645384945

Gene: GJB6 HGNC NCBI

ClinVar RCV:

RCV000487477

RCV001856883

RCV002265780

ClinVar Variation:

424855

HGVS (amino-acid)	Matching Registered Transcripts
NP_006774.2:p.Ala40Val	CA6904506 NM_006783.5:c.119C>T