Canonical Allele Identifier: PA2827876353
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160207
ClinVar RCV Id: RCV000147868

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341479.1:p.Gly148Glu
CA333528
NM_001354550.2:c.443G>A