Canonical Allele Identifier: PA2825765388
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336965
ClinVar RCV Id: RCV000294142 RCV000347373 RCV000727170 RCV001140788 RCV001276443
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Val1117Ile
CA1706568
NM_001130984.2:c.3349G>A