ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825752771
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000358891
RCV001140902
RCV001833383
ClinVar Variation:
288624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Arg1423Cys
CA1706966
NM_001130978.2:c.4267C>T