Allele Registry

Canonical Allele Identifier: PA2827866557

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000147884

RCV000154106

ClinVar Variation:

160221

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341441.1:p.Gly850Asp	CA235190 NM_001354512.2:c.2549G>A