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_001341475.1:p.Lys126Asn
CA391355585
NM_001354546.2:c.378A>T
CA391355586
NM_001354546.2:c.378A>C