Allele Registry

Canonical Allele Identifier: PA658831307

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000664869

RCV000762905

RCV001861739

ClinVar Variation:

550195

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Arg32Ser	CA387461995 NM_004004.6:c.94C>A