Canonical Allele Identifier: PA2825752337
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 498954
ClinVar RCV Id: RCV000591140 RCV001376861 RCV002271535 RCV003338676 RCV003465340
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Arg1040Trp
CA347217064
NM_001130978.2:c.3118C>T