Allele Registry

Canonical Allele Identifier: PA133849

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000037239

RCV000183371

RCV000547988

RCV000852536

ClinVar Variation:

44259

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Arg127Pro	CA133847 NM_001927.4:c.380G>C