Allele Registry

Canonical Allele Identifier: PA100559

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000056794

ClinVar Variation:

66406

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Ser46Phe	CA217055 NM_001927.4:c.137C>T