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
ENSP00000381045.2:p.Met825Leu
CA391351010
ENST00000397954.6:c.2473A>T
CA391351013
ENST00000397954.6:c.2473A>C