Canonical Allele Identifier: PA2825756518
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290257
ClinVar RCV Id: RCV000300931 RCV000405461 RCV000726455 RCV001082501 RCV001271788 RCV003910038
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.His752Asn
CA1706110
NM_001130980.2:c.2254C>A