Canonical Allele Identifier: PA2828917184
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 1304524
ClinVar RCV Id: RCV001752291
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369642.1:p.Asn116Lys
CA350685418
NM_001382713.1:c.348T>A
CA350685429
NM_001382713.1:c.348T>G