Canonical Allele Identifier: PA2828520175
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 7969
ClinVar RCV Id: RCV000008433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361390.1:p.Ile130Thr
CA325628
NM_001374461.1:c.389T>C