Canonical Allele Identifier: PA2825757399
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336973
ClinVar RCV Id: RCV000287411 RCV000321328 RCV001138012 RCV001828334 RCV003144233
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Lys1514Asn
CA1707061
NM_001130980.2:c.4542G>T
CA347218052
NM_001130980.2:c.4542G>C