Canonical Allele Identifier: PA915953530
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_000453.2:p.Leu858_Lys859del
CA279164
NM_000462.5:c.2572_2577del