Canonical Allele Identifier: PA2830185347
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_570854.1:p.Leu855_Lys856del
CA279164
NM_130839.2:c.2563_2568del