Allele Registry

Canonical Allele Identifier: PA133810

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000037224

RCV000056766

RCV000157164

RCV001039932

RCV001250885

RCV003298065

RCV003398603

RCV003486560

ClinVar Variation:

44244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Arg350Trp	CA133808 NM_001927.4:c.1048C>T