Allele Registry

Canonical Allele Identifier: PA2829467259

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000493116

RCV000555598

RCV000596380

RCV001196058

RCV003469174

ClinVar Variation:

242418

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Arg1038Gln	CA1706448 NM_003494.4:c.3113G>A