Allele Registry

Canonical Allele Identifier: PA2827874635

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000147884

RCV000154106

ClinVar Variation:

160221

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341475.1:p.Gly811Asp	CA235190 NM_001354546.2:c.2432G>A