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_001341441.1:p.Asp166Glu
CA391355577
NM_001354512.2:c.498T>G
CA391355578
NM_001354512.2:c.498T>A