Canonical Allele Identifier: PA2825755639
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 501582
ClinVar RCV Id: RCV000596899
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124451.1:p.Cys2002Arg
CA347226529
NM_001130979.2:c.6004T>C