Canonical Allele Identifier: PA2825694284
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 286743
ClinVar RCV Id: RCV000361984 RCV000693473 RCV000665677 RCV003401254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1042Cys
CA1706454
NM_001130455.2:c.3124C>T