Allele Registry

Canonical Allele Identifier: PA2825748571

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000689268

RCV000711566

RCV001274852

RCV003278732

ClinVar Variation:

282885

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Arg1706His	CA1707309 NM_001130976.2:c.5117G>A