ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828569375
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_001362213.1:p.Asp274His
CA3041918
NM_001375284.1:c.820G>C