Canonical Allele Identifier: PA2828520654
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_001361390.1:p.Gly850Asp
CA235190
NM_001374461.1:c.2549G>A