Allele Registry

Canonical Allele Identifier: PA253917

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007068

RCV000726614

RCV001038919

RCV001388966

RCV003460431

ClinVar Variation:

6681

837557

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Gly299Arg	CA253916 NM_001130978.2:c.895G>A CA49761605 NM_001130978.2:c.895G>C