Canonical Allele Identifier: PA2825766165
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1980346
ClinVar RCV Id: RCV002780231
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Gly1840Arg
CA347222985
NM_001130984.2:c.5518G>A
CA347222987
NM_001130984.2:c.5518G>C