Canonical Allele Identifier: PA2828520436
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_001361390.1:p.Arg506Cys
CA16619907
NM_001374461.1:c.1516C>T