Allele Registry

Canonical Allele Identifier: PA915966519

Gene: UBE3A HGNC NCBI

ClinVar RCV:

RCV000201274

RCV000417032

ClinVar Variation:

217366

HGVS (amino-acid)	Matching Registered Transcripts
NP_000453.2:p.Met339Thr	CA279176 NM_000462.5:c.1016T>C