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
ENSP00000401265.2:p.Glu280Asp
CA391354818
ENST00000428984.6:c.840A>T
CA391354819
ENST00000428984.6:c.840A>C