Allele Registry

Canonical Allele Identifier: PA2825762252

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007068

RCV000726614

RCV001038919

RCV001388966

RCV003460431

ClinVar Variation:

6681

837557

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Gly300Arg	CA253916 NM_001130983.2:c.898G>A CA49761605 NM_001130983.2:c.898G>C