ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825757237
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289774
ClinVar RCV Id:
RCV000266054
RCV002518100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Val1375Met
CA1706898
NM_001130980.2:c.4123G>A