Canonical Allele Identifier: PA915966519
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 217366
ClinVar RCV Id: RCV000201274 RCV000417032
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000453.2:p.Met339Thr
CA279176
NM_000462.5:c.1016T>C