Allele Registry

Canonical Allele Identifier: PA915973493

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000656079

RCV001089586

RCV001220606

ClinVar Variation:

545009

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Leu588Pro	CA1705913 NM_001130982.2:c.1763T>C