Allele Registry

Canonical Allele Identifier: PA100436

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000056811

RCV002226454

RCV002265590

ClinVar Variation:

66420

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Glu245Asp	CA217085 NM_001927.4:c.735G>C CA350690686 NM_001927.4:c.735G>T