Canonical Allele Identifier: PA915973931
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 287474
ClinVar RCV Id: RCV000383544 RCV001085324 RCV001276442
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Arg1129Cys
CA1706529
NM_001130982.2:c.3385C>T