Canonical Allele Identifier: PA645477660
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 286743
ClinVar RCV Id: RCV000361984 RCV000693473 RCV000665677 RCV003401254
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Arg1059Cys
CA1706454
NM_001130987.2:c.3175C>T