Allele Registry

Canonical Allele Identifier: PA2825753067

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000648020

RCV000672247

RCV003469178

ClinVar Variation:

242527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Arg1714Gln	CA351294 NM_001130978.2:c.5141G>A