Canonical Allele Identifier: PA2829468108
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 285356
ClinVar RCV Id: RCV000530924 RCV000664797 RCV000725642 RCV003235177
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Tyr1494His
CA1707060
NM_003494.4:c.4480T>C