Canonical Allele Identifier: PA2825760790
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 285813
ClinVar RCV Id: RCV000335981 RCV000535143 RCV001274443 RCV002480026
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Arg500Cys
CA1705795
NM_001130982.2:c.1498C>T