Allele Registry

Canonical Allele Identifier: PA2825694779

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000671892

RCV001247195

RCV001531487

ClinVar Variation:

555968

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Leu1342Pro	CA1706888 NM_001130455.2:c.4025T>C