Canonical Allele Identifier: PA2825759722
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471310
ClinVar RCV Id: RCV000732545 RCV000559661
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Ala1597Thr
CA1707145
NM_001130981.2:c.4789G>A