Canonical Allele Identifier: PA2827873545
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160219
ClinVar RCV Id: RCV000147881

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341473.1:p.Tyr829His
CA333549
NM_001354544.2:c.2485T>C