Allele Registry

Canonical Allele Identifier: PA2830185358

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000147884

RCV000154106

ClinVar Variation:

160221

HGVS (amino-acid)	Matching Registered Transcripts
NP_570854.1:p.Gly870Asp	CA235190 NM_130839.2:c.2609G>A