Canonical Allele Identifier: PA2827870301
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 420601

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341468.1:p.Val267Ile
CA16619910
NM_001354539.2:c.799G>A