Allele Registry

Canonical Allele Identifier: PA100533

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000037240

RCV000056801

RCV001389153

ClinVar Variation:

44260

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Ser13Phe	CA261520 NM_001927.4:c.38C>T