Canonical Allele Identifier: PA2827866211
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 217366

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341441.1:p.Met316Thr
CA279176
NM_001354512.2:c.947T>C