Canonical Allele Identifier: PA2825694302
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6675
ClinVar RCV Id: RCV000007060 RCV000176936 RCV000763088 RCV000790688 RCV001229764
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1047His
CA222152
NM_001130455.2:c.3140G>A