Allele Registry

Canonical Allele Identifier: PA133834

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000037234

RCV000547047

RCV000586931

RCV000621896

RCV001142158

RCV001142159

ClinVar Variation:

44254

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Ser57Leu	CA133832 NM_001927.4:c.170C>T