Canonical Allele Identifier: PA2828916700
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 2450702
ClinVar RCV Id: RCV003177140
ClinVar Variation Id: 2450703
ClinVar RCV Id: RCV003171483

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369641.1:p.Arg105Pro
CA350685163
NM_001382712.1:c.314G>C
CA2580065781
NM_001382712.1:c.314_315delinsCT