Canonical Allele Identifier: PA2825769182
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 813959
ClinVar RCV Id: RCV001004943
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Cys508Arg
CA347217368
NM_001130986.2:c.1522T>C