Canonical Allele Identifier: PA2825764707
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6679
ClinVar RCV Id: RCV000007066 RCV000342783 RCV001048974
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Gly506Arg
CA253913
NM_001130984.2:c.1516G>A
CA347217356
NM_001130984.2:c.1516G>C