Canonical Allele Identifier: PA2825757761
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 538643
ClinVar RCV Id: RCV000648015 RCV001276864 RCV002222581 RCV003144430
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Thr1848Met
CA1707445
NM_001130980.2:c.5543C>T