Canonical Allele Identifier: PA2825763083
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 497848
ClinVar RCV Id: RCV000593694 RCV001276440 RCV001034781
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Arg1085Cys
CA1706513
NM_001130983.2:c.3253C>T