Allele Registry

Canonical Allele Identifier: PA279178

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000201274

RCV000417032

ClinVar Variation:

217366

HGVS (amino-acid)	Matching Registered Transcripts
NP_570853.1:p.Met316Thr	CA279176 NM_130838.1:c.947T>C