Allele Registry

Canonical Allele Identifier: PA2825768869

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000593233

RCV001240944

RCV001834886

ClinVar Variation:

499205

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124458.1:p.Pro218Leu	CA1705435 NM_001130986.2:c.653C>T