Allele Registry

Canonical Allele Identifier: PA100429

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000056776

RCV002265563

ClinVar Variation:

16830

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Gln389Pro	CA217025 NM_001927.4:c.1166A>C