Canonical Allele Identifier: PA2825751934
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 286177
ClinVar RCV Id: RCV000329065 RCV000559041 RCV000725802 RCV004021194
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Arg684Trp
CA1706039
NM_001130978.2:c.2050C>T