Canonical Allele Identifier: PA294633
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 156620
ClinVar RCV Id: RCV000144763 RCV000147882 RCV002274930
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Leu855Phe
CA294630
NM_130839.2:c.2563C>T