Allele Registry

Canonical Allele Identifier: PA2825694245

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000551403

RCV001272824

RCV003144341

ClinVar Variation:

471296

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Pro1030Ala	CA347216998 NM_001130455.2:c.3088C>G