Canonical Allele Identifier: PA2827875553
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160207
ClinVar RCV Id: RCV000147868

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341477.1:p.Gly545Glu
CA333528
NM_001354548.2:c.1634G>A