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
ENSP00000490557.1:p.His508Gln	CA391353256 ENST00000638155.1:c.1524T>G CA391353257 ENST00000638155.1:c.1524T>A