Canonical Allele Identifier: PA2825748331
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_001124448.1:p.Tyr1480His
CA1707060
NM_001130976.2:c.4438T>C