Allele Registry

Canonical Allele Identifier: PA2829466293

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000592160

RCV000807941

RCV001276724

ClinVar Variation:

500618

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Ser423Thr	CA1705707 NM_003494.4:c.1268G>C