Allele Registry

Canonical Allele Identifier: PA238728

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000463940

RCV000710118

RCV001330866

RCV001706118

RCV001798625

RCV002265658

RCV002426827

ClinVar Variation:

193219

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Ser72Arg	CA238726 NM_001927.4:c.216C>A CA350683968 NM_001927.4:c.214A>C CA350684020 NM_001927.4:c.216C>G