Canonical Allele Identifier: PA2827874403
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155997
ClinVar RCV Id: RCV000144320

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341475.1:p.Arg438Pro
CA333399
NM_001354546.2:c.1313G>C