Allele Registry

Canonical Allele Identifier: PA2825770079

Gene: DYSF HGNC NCBI

ClinVar Allele:

274907

ClinVar RCV:

RCV000266196

RCV000343174

RCV000392904

RCV001140152

RCV003380540

ClinVar Variation:

290670

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124458.1:p.Arg1329Gln	CA1706890 NM_001130986.2:c.3986G>A