Canonical Allele Identifier: PA2827870853
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 136205
ClinVar RCV Id: RCV000144556

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341469.1:p.Leu237Pro
CA333484
NM_001354540.2:c.710T>C