Canonical Allele Identifier: PA2825753817
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6681
ClinVar Variation Id: 837557
ClinVar RCV Id: RCV001038919

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124451.1:p.Gly330Arg
CA253916
NM_001130979.2:c.988G>A
CA49761605
NM_001130979.2:c.988G>C