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
NP_001341438.1:p.Asp247Glu
CA391355044
NM_001354509.2:c.741C>G
CA391355045
NM_001354509.2:c.741C>A