Canonical Allele Identifier: PA2827868178
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160217
ClinVar RCV Id: RCV000147878 RCV003619649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341452.1:p.Val691Ile
CA173808
NM_001354523.2:c.2071G>A