Canonical Allele Identifier: PA2825748624
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 286151
ClinVar RCV Id: RCV000294536 RCV000725796 RCV000817667 RCV003114448 RCV003469237
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Arg1754Trp
CA1707356
NM_001130976.2:c.5260C>T