Canonical Allele Identifier: PA2827876253
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 217365

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341478.1:p.Leu780_Lys781del
CA279164
NM_001354549.2:c.2338_2343del