Allele Registry

Canonical Allele Identifier: PA658806741

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000598052

RCV000648023

RCV001274446

RCV001526744

ClinVar Variation:

498346

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Arg600Trp	CA1705929 NM_001130987.2:c.1798C>T