Allele Registry

Canonical Allele Identifier: PA2573218243

Gene: DES HGNC NCBI

ClinVar RCV:

RCV002027221

RCV002486738

RCV003146490

ClinVar Variation:

1517261

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Ala360Ser	CA350694040 NM_001927.4:c.1078G>T