Allele Registry

Canonical Allele Identifier: PA2825749433

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000592160

RCV000807941

RCV001276724

ClinVar Variation:

500618

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Ser423Thr	CA1705707 NM_001130977.2:c.1268G>C