Canonical Allele Identifier: PA1139719473
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 835925
ClinVar RCV Id: RCV001036926

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001918.3:p.Glu246Asp
CA350690716
NM_001927.4:c.738G>C
CA350690717
NM_001927.4:c.738G>T