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
ENSP00000490563.1:p.Glu169Asp
CA391355553
ENST00000635914.1:c.507A>T
CA391355554
ENST00000635914.1:c.507A>C