Allele Registry

Canonical Allele Identifier: PA2827876530

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000144315

RCV002514772

RCV003389042

ClinVar Variation:

155992

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341479.1:p.Pro430Leu	CA333384 NM_001354550.2:c.1289C>T