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.Leu500Phe
CA391353310
NM_001354509.2:c.1500G>T
CA391353311
NM_001354509.2:c.1500G>C