Allele Registry

Canonical Allele Identifier: PA2825769180

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007066

RCV000342783

RCV001048974

ClinVar Variation:

6679

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124458.1:p.Gly506Arg	CA253913 NM_001130986.2:c.1516G>A CA347217356 NM_001130986.2:c.1516G>C