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
ENSP00000486388.1:p.Glu49Asp
CA391356531
ENST00000628733.2:c.147G>T
CA391356532
ENST00000628733.2:c.147G>C