Allele Registry

Canonical Allele Identifier: PA2825756960

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000383544

RCV001085324

RCV001276442

ClinVar Variation:

287474

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Arg1114Cys	CA1706529 NM_001130980.2:c.3340C>T