Allele Registry

Canonical Allele Identifier: PA2825694493

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000523566

RCV001142639

RCV001829492

ClinVar Variation:

450303

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Arg1152Cys	CA1706610 NM_001130455.2:c.3454C>T