Canonical Allele Identifier: PA2825761616
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 286151
ClinVar RCV Id: RCV000294536 RCV000725796 RCV000817667 RCV003114448 RCV003469237
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Arg1800Trp
CA1707356
NM_001130982.2:c.5398C>T