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

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000381045.2:p.Asn497Asp
ENST00000397954.6:c.1489A>G