ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828569432
Gene: CFI
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000505641
RCV001865643
RCV002490847
ClinVar Variation:
438686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362213.1:p.Ser367Thr
CA3041835
NM_001375284.1:c.1100G>C