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
ENSP00000490557.1:p.Asp247Glu
CA391355044
ENST00000638155.1:c.741C>G
CA391355045
ENST00000638155.1:c.741C>A