Allele Registry

Canonical Allele Identifier: PA2829467377

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000383544

RCV001085324

RCV001276442

ClinVar Variation:

287474

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Arg1097Cys	CA1706529 NM_003494.4:c.3289C>T