Allele Registry

Canonical Allele Identifier: PA2827870914

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000201274

RCV000417032

ClinVar Variation:

217366

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341469.1:p.Met316Thr	CA279176 NM_001354540.2:c.947T>C