Canonical Allele Identifier: PA2828915429
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 1304524
ClinVar RCV Id: RCV001752291

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369638.1:p.Asn116Lys
CA350685418
NM_001382709.1:c.348T>A
CA350685429
NM_001382709.1:c.348T>G