Allele Registry

Canonical Allele Identifier: PA2825694596

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000727399

RCV000765698

RCV001272834

RCV001485096

RCV001563734

RCV001563735

ClinVar Variation:

452908

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Pro1215Leu	CA1706667 NM_001130455.2:c.3644C>T