Allele Registry

Canonical Allele Identifier: PA134996

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000037870

RCV000666342

RCV000710115

RCV000763879

ClinVar Variation:

44765

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Lys224Gln	CA134995 NM_004004.6:c.670A>C