Allele Registry

Canonical Allele Identifier: PA658832448

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000671892

RCV001247195

RCV001531487

ClinVar Variation:

555968

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Leu1359Pro	CA1706888 NM_001130987.2:c.4076T>C