Canonical Allele Identifier: PA2825761565
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 282885
ClinVar RCV Id: RCV000689268 RCV000711566 RCV001274852 RCV003278732
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Arg1752His
CA1707309
NM_001130982.2:c.5255G>A