Canonical Allele Identifier: PA2825694283
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 499041
ClinVar RCV Id: RCV000592866 RCV001563740 RCV001563742 RCV001563741 RCV001854033
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1042His
CA1706455
NM_001130455.2:c.3125G>A