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) Matching Registered Transcripts
ENSP00000487217.1:p.Asp168Glu
CA391355561
ENST00000625778.2:c.504T>G
CA391355562
ENST00000625778.2:c.504T>A