Canonical Allele Identifier: PA2827870464
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 421257

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341468.1:p.Arg506His
CA16619906
NM_001354539.2:c.1517G>A