Allele Registry

Canonical Allele Identifier: PA2825750885

Gene: DYSF HGNC NCBI

ClinVar Allele:

270388

ClinVar RCV:

RCV000294536

RCV000725796

RCV000817667

RCV003114448

RCV003469237

ClinVar Variation:

286151

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Arg1775Trp	CA1707356 NM_001130977.2:c.5323C>T