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
ENSP00000497572.2:p.Glu49Asp	CA391356531 ENST00000648336.2:c.147G>T CA391356532 ENST00000648336.2:c.147G>C