Allele Registry

Canonical Allele Identifier: PA2825755656

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000294790

RCV000310459

RCV000373089

RCV001087591

ClinVar Variation:

288412

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124451.1:p.Ser2026Arg	CA1707595 NM_001130979.2:c.6076A>C CA347226769 NM_001130979.2:c.6078T>G CA347226770 NM_001130979.2:c.6078T>A