Allele Registry

Canonical Allele Identifier: PA2825755349

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000595675

RCV001243854

RCV001829645

ClinVar Variation:

498372

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124451.1:p.Gln1731Leu	CA1707293 NM_001130979.2:c.5192A>T