Canonical Allele Identifier: PA2825760531
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 289140
ClinVar RCV Id: RCV000288184 RCV000345514 RCV000363052 RCV000557862 RCV001273970
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Val267Met
CA1705466
NM_001130982.2:c.799G>A