Canonical Allele Identifier: PA2825694245
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471296
ClinVar RCV Id: RCV000551403 RCV001272824 RCV003144341
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Pro1030Ala
CA347216998
NM_001130455.2:c.3088C>G