Allele Registry

Canonical Allele Identifier: PA2830184735

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000415459

ClinVar Variation:

373923

HGVS (amino-acid)	Matching Registered Transcripts
NP_570853.1:p.Gly738Arg	CA16043487 NM_130838.1:c.2212G>A CA391351616 NM_130838.1:c.2212G>C