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
ENSP00000497549.1:p.Leu500Phe	CA391353310 ENST00000649550.1:c.1500G>T CA391353311 ENST00000649550.1:c.1500G>C