Allele Registry

Canonical Allele Identifier: PA915973564

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000329065

RCV000559041

RCV000725802

RCV004021194

ClinVar Variation:

286177

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Arg716Trp	CA1706039 NM_001130982.2:c.2146C>T