Canonical Allele Identifier: PA2825752765
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 500018
ClinVar RCV Id: RCV000596365 RCV001370590 RCV001829658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Arg1414Trp
CA1706959
NM_001130978.2:c.4240C>T