ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825752421
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000383544
RCV001085324
RCV001276442
ClinVar Variation:
287474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Arg1097Cys
CA1706529
NM_001130978.2:c.3289C>T