Canonical Allele Identifier: PA2828520456
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160207
ClinVar RCV Id: RCV000147868
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361390.1:p.Gly545Glu
CA333528
NM_001374461.1:c.1634G>A