Canonical Allele Identifier: PA2825753191
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 281104
ClinVar RCV Id: RCV000725163 RCV001085921 RCV003939934 RCV004021072 RCV001276862
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Arg1817Trp
CA1707403
NM_001130978.2:c.5449C>T