Canonical Allele Identifier: PA2827876538
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_001341479.1:p.Leu438_Lys439del
CA279164
NM_001354550.2:c.1312_1317del