Allele Registry

Canonical Allele Identifier: PA2825695585

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000725163

RCV001085921

RCV001276862

RCV003939934

RCV004021072

ClinVar Variation:

281104

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Arg1797Trp	CA1707403 NM_001130455.2:c.5389C>T