Canonical Allele Identifier: PA2827874107
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160221
ClinVar RCV Id: RCV000154106 RCV000147884
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341474.1:p.Gly818Asp
CA235190
NM_001354545.2:c.2453G>A