Allele Registry

Canonical Allele Identifier: PA261636

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000037813

RCV001090238

ClinVar Variation:

44723

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Ala40Glu	CA261635 NM_004004.6:c.119C>A