Canonical Allele Identifier: PA2827874253
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 420601
ClinVar RCV Id: RCV000486907 RCV000695593
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341475.1:p.Val228Ile
CA16619910
NM_001354546.2:c.682G>A