Canonical Allele Identifier: PA2825753226
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1980346
ClinVar RCV Id: RCV002780231
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Gly1853Arg
CA347222985
NM_001130978.2:c.5557G>A
CA347222987
NM_001130978.2:c.5557G>C