Canonical Allele Identifier: PA2827866007
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160202
ClinVar RCV Id: RCV000147863 RCV001762327 RCV003237745
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341441.1:p.Arg39His
CA173802
NM_001354512.2:c.116G>A