Canonical Allele Identifier: PA2827864065
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160209
ClinVar RCV Id: RCV000147870

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341436.1:p.Asp563Gly
CA333534
NM_001354507.2:c.1688A>G