Allele Registry

Canonical Allele Identifier: PA198807

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000037821

RCV000211762

RCV000724654

RCV000762907

RCV003990963

ClinVar Variation:

44729

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Met1Val