Allele Registry

Canonical Allele Identifier: PA2825769847

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000294142

RCV000347373

RCV000727170

RCV001140788

RCV001276443

ClinVar Variation:

336965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124458.1:p.Val1117Ile	CA1706568 NM_001130986.2:c.3349G>A