Allele Registry

Canonical Allele Identifier: PA2825694407

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000383544

RCV001085324

RCV001276442

ClinVar Variation:

287474

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Arg1098Cys	CA1706529 NM_001130455.2:c.3292C>T