Canonical Allele Identifier: PA2827876253
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 217365
ClinVar RCV Id: RCV000201266 RCV000701063
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Amino-acid Alleles

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