Canonical Allele Identifier: PA2825761377
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 285741
ClinVar RCV Id: RCV000306735 RCV000338437 RCV001055238 RCV000406757 RCV001833354 RCV002519192
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Pro1587Ser
CA1707143
NM_001130982.2:c.4759C>T