Canonical Allele Identifier: PA2825763687
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94332
ClinVar RCV Id: RCV000080298 RCV000669830 RCV000864868 RCV001086563 RCV003952509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Val1648Ile
CA222178
NM_001130983.2:c.4942G>A