Canonical Allele Identifier: PA2825694643
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290657
ClinVar RCV Id: RCV000326858 RCV000517716 RCV000710129 RCV001085630 RCV003957518
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1243His
CA1706705
NM_001130455.2:c.3728G>A