Canonical Allele Identifier: PA222140
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6671
ClinVar RCV Id: RCV000007055 RCV000007056 RCV000790785 RCV000807968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Pro791Arg
CA222139
NM_001130978.2:c.2372C>G