Canonical Allele Identifier: PA2825750966
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2144690
ClinVar RCV Id: RCV003071061
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124449.1:p.Ser1843Asn
CA347223063
NM_001130977.2:c.5528G>A