Canonical Allele Identifier: PA2825693712
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 286177
ClinVar RCV Id: RCV000329065 RCV000559041 RCV000725802 RCV004021194
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg685Trp
CA1706039
NM_001130455.2:c.2053C>T