Canonical Allele Identifier: PA2825763381
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290670
ClinVar RCV Id: RCV000343174 RCV000392904 RCV001140152 RCV003380540 RCV000266196
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Arg1343Gln
CA1706890
NM_001130983.2:c.4028G>A