Canonical Allele Identifier: PA2825759935
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 500090
ClinVar RCV Id: RCV000665182 RCV000711567 RCV002531059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Arg1787Cys
CA1707345
NM_001130981.2:c.5359C>T