Canonical Allele Identifier: PA915953213
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 418572
ClinVar RCV Id: RCV000478539 RCV000690582 RCV003900014
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000453.2:p.Arg529Cys
CA16619907
NM_000462.5:c.1585C>T