Allele Registry

Canonical Allele Identifier: PA2827865187

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000478539

RCV000690582

RCV003900014

ClinVar Variation:

418572

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341438.1:p.Arg506Cys	CA16619907 NM_001354509.2:c.1516C>T