Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: UBE3A HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000502703.1:p.Glu130Asp	CA391355553 ENST00000675177.1:c.390A>T CA391355554 ENST00000675177.1:c.390A>C