Canonical Allele Identifier: PA2827872214
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_001341471.1:p.Gly545Glu
CA333528
NM_001354542.2:c.1634G>A