Canonical Allele Identifier: PA2825763852
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 286151
ClinVar RCV Id: RCV000294536 RCV000725796 RCV000817667 RCV003114448 RCV003469237
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Arg1790Trp
CA1707356
NM_001130983.2:c.5368C>T