Allele Registry

Canonical Allele Identifier: PA2825694772

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000812166

RCV001089590

RCV001830775

RCV003461204

ClinVar Variation:

655896

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Glu1336Lys	CA1706854 NM_001130455.2:c.4006G>A