Allele Registry

Canonical Allele Identifier: PA100570

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000056793

ClinVar Variation:

66405

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Ser46Tyr	CA217053 NM_001927.4:c.137C>A