ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825756348
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
545009
ClinVar RCV Id:
RCV000656079
RCV001089586
RCV001220606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Leu573Pro
CA1705913
NM_001130980.2:c.1718T>C