Canonical Allele Identifier: PA2825694273
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 282449
ClinVar RCV Id: RCV000351237 RCV000665378 RCV001297834 RCV003469226
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1040Trp
CA1706450
NM_001130455.2:c.3118C>T