Allele Registry

Canonical Allele Identifier: PA333386

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144315

RCV002514772

RCV003389042

ClinVar Variation:

155992

HGVS (amino-acid)	Matching Registered Transcripts
NP_570853.1:p.Pro827Leu	CA333384 NM_130838.1:c.2480C>T