ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022200
Gene: CFI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
347153
ClinVar RCV Id:
RCV000322070
RCV001753817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304986.2:p.Asp485His
CA3041918
NM_001318057.2:c.1453G>C