Canonical Allele Identifier: PA2828916791
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 1011900
ClinVar RCV Id: RCV001309772 RCV002341621 RCV002486212
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369641.1:p.Arg173Ser
CA2125074
NM_001382712.1:c.517C>A