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_001341476.1:p.Lys749Asn
CA391351015
NM_001354547.2:c.2247G>T
CA391351016
NM_001354547.2:c.2247G>C