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
ENSP00000486349.1:p.Leu800Phe	CA391351030 ENST00000630424.2:c.2400A>T CA391351033 ENST00000630424.2:c.2400A>C