Canonical Allele Identifier: PA2825751866
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 195490
ClinVar RCV Id: RCV000176067 RCV000675177 RCV001852168 RCV003235095 RCV003468857
ClinVar Variation Id: 217224
ClinVar RCV Id: RCV000201138 RCV000726170
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Gly618Arg
CA241938
NM_001130978.2:c.1852G>A
CA277611
NM_001130978.2:c.1852G>C