Allele Registry

Canonical Allele Identifier: PA2825747335

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000176067

RCV000201138

RCV000675177

RCV000726170

RCV001852168

RCV003235095

RCV003468857

ClinVar Variation:

195490

217224

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Gly604Arg	CA241938 NM_001130976.2:c.1810G>A CA277611 NM_001130976.2:c.1810G>C