Canonical Allele Identifier: PA2825752053
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283977
ClinVar RCV Id: RCV000271598 RCV000356959 RCV000366269 RCV000695150 RCV001271793 RCV002487214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Arg808Gln
CA1706183
NM_001130978.2:c.2423G>A