Canonical Allele Identifier: PA2827875111
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 1329670
ClinVar RCV Id: RCV001799978

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341476.1:p.Glu714Ala
CA391351270
NM_001354547.2:c.2141A>C