Allele Registry

Canonical Allele Identifier: PA100541

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000056804

RCV000794180

ClinVar Variation:

66414

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Ser2Ile	CA217078 NM_001927.4:c.5G>T