Canonical Allele Identifier: PA2825694270
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 242418
ClinVar RCV Id: RCV000493116 RCV000555598 RCV000596380 RCV001196058 RCV003469174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1039Gln
CA1706448
NM_001130455.2:c.3116G>A