Canonical Allele Identifier: PA2825749239
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284800
ClinVar RCV Id: RCV000595594 RCV001254624 RCV001379021 RCV002502122 RCV003469232
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124449.1:p.Arg253Trp
CA1705479
NM_001130977.2:c.757C>T