Canonical Allele Identifier: PA2825764836
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 195598
ClinVar RCV Id: RCV000292466 RCV000328757 RCV000487642 RCV001085988 RCV001563948 RCV001563950 RCV001563949 RCV003416078
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Lys643Glu
CA242074
NM_001130984.2:c.1927A>G