Canonical Allele Identifier: PA2825693744
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471284
ClinVar RCV Id: RCV000547561 RCV000734858 RCV001834789 RCV002506358
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Val706Met
CA1706074
NM_001130455.2:c.2116G>A