{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344907",
  "communityStandardTitle": [
    "NM_000204.5(CFI):c.782G>A (p.Gly261Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76488[alleleid]",
        "alleleId": 76488,
        "preferredName": "NM_000204.5(CFI):c.782G>A (p.Gly261Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65580",
        "RCV": [
          "RCV000055784",
          "RCV000892174",
          "RCV001171354",
          "RCV002294012",
          "RCV002496740",
          "RCV004537251"
        ],
        "variationId": 65580
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-110681527-C-T",
        "id": "4-110681527-C-T",
        "variant": "4:110681527 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.110681527C>T?assembly=hg19",
        "id": "chr4:g.110681527C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.109760371C>T?assembly=hg38",
        "id": "chr4:g.109760371C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/112534524",
        "rs": 112534524
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-110681527-C-T?dataset=gnomad_r2_1",
        "id": "4-110681527-C-T",
        "variant": "4:110681527 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-109760371-C-T?dataset=gnomad_r3",
        "id": "4-109760371-C-T",
        "variant": "4:109760371 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-109760371-C-T?dataset=gnomad_r4",
        "id": "4-109760371-C-T",
        "variant": "4:109760371 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 109760371,
          "referenceAllele": "C",
          "start": 109760370
        }
      ],
      "hgvs": [
        "NC_000004.12:g.109760371C>T",
        "CM000666.2:g.109760371C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 110681527,
          "referenceAllele": "C",
          "start": 110681526
        }
      ],
      "hgvs": [
        "NC_000004.11:g.110681527C>T",
        "CM000666.1:g.110681527C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 110900976,
          "referenceAllele": "C",
          "start": 110900975
        }
      ],
      "hgvs": [
        "NC_000004.10:g.110900976C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46615,
          "referenceAllele": "G",
          "start": 46614
        }
      ],
      "hgvs": [
        "NG_007569.1:g.46615G>A",
        "LRG_48:g.46615G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000655"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000695844.1:n.961G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 960,
          "referenceAllele": "G",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000695845.1:n.960G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000695846.1:n.782G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000394634.7:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378130.2:p.Gly261Asp",
        "hgvsWellDefined": "ENSP00000378130.2:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394634.7:c.782G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000204.5:c.782G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378130.2:p.Gly261Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000195.3:p.Gly261Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000394635.8:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378131.3:p.Gly261Asp",
        "hgvsWellDefined": "ENSP00000378131.3:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "hgvs": [
        "ENST00000645635.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493607.1:p.Gly261Asp",
        "hgvsWellDefined": "ENSP00000493607.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000394634.6:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378130.2:p.Gly261Asp",
        "hgvsWellDefined": "ENSP00000378130.2:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000394635.7:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378131.3:p.Gly261Asp",
        "hgvsWellDefined": "ENSP00000378131.3:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000504853.3:n.1199G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "G",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000512148.5:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427438.1:p.Gly261Asp",
        "hgvsWellDefined": "ENSP00000427438.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000618244.4:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483416.1:p.Gly261Asp",
        "hgvsWellDefined": "ENSP00000483416.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403855"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344909",
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_000204.3:c.782G>A",
        "LRG_48t1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000195.2:p.Gly261Asp",
        "hgvsWellDefined": "NP_000195.2:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_005262975.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263032.1:p.Gly261Asp",
        "hgvsWellDefined": "XP_005263032.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_005262976.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263033.1:p.Gly261Asp",
        "hgvsWellDefined": "XP_005263033.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_006714209.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714272.1:p.Gly261Asp",
        "hgvsWellDefined": "XP_006714272.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_006714210.2:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714273.1:p.Gly261Asp",
        "hgvsWellDefined": "XP_006714273.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_011531920.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530222.1:p.Gly261Asp",
        "hgvsWellDefined": "XP_011530222.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344909",
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_000204.4:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000195.2:p.Gly261Asp",
        "hgvsWellDefined": "NP_000195.2:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001318057.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304986.1:p.Gly261Asp",
        "hgvsWellDefined": "NP_001304986.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028676",
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001331035.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317964.1:p.Gly261Asp",
        "hgvsWellDefined": "NP_001317964.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_006714210.4:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714273.1:p.Gly261Asp",
        "hgvsWellDefined": "XP_006714273.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_011531920.2:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530222.1:p.Gly261Asp",
        "hgvsWellDefined": "XP_011530222.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_017008164.2:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863653.1:p.Gly261Asp",
        "hgvsWellDefined": "XP_016863653.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_017008165.2:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863654.1:p.Gly261Asp",
        "hgvsWellDefined": "XP_016863654.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_017008166.2:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863655.1:p.Gly261Asp",
        "hgvsWellDefined": "XP_016863655.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826977751",
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001318057.2:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304986.2:p.Gly261Asp",
        "hgvsWellDefined": "NP_001304986.2:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028676",
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001331035.2:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317964.1:p.Gly261Asp",
        "hgvsWellDefined": "NP_001317964.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828567709",
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375278.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362207.1:p.Gly261Asp",
        "hgvsWellDefined": "NP_001362207.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828567909",
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375279.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362208.1:p.Gly261Asp",
        "hgvsWellDefined": "NP_001362208.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693440"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828568220",
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375280.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362209.1:p.Gly261Asp",
        "hgvsWellDefined": "NP_001362209.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693441"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828568529",
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375281.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362210.1:p.Gly261Asp",
        "hgvsWellDefined": "NP_001362210.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828568840",
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375282.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362211.1:p.Gly261Asp",
        "hgvsWellDefined": "NP_001362211.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693443"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828569055",
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375283.1:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362212.1:p.Gly261Asp",
        "hgvsWellDefined": "NP_001362212.1:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573073590",
      "coordinates": [
        {
          "allele": "A",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375284.1:c.173G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362213.1:p.Gly58Asp",
        "hgvsWellDefined": "NP_001362213.1:p.Gly58Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NR_164671.1:n.810G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NR_164672.1:n.810G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NR_164673.1:n.810G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705767"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825083707",
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "G",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_000204.5:c.782G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000195.3:p.Gly261Asp",
        "hgvsWellDefined": "NP_000195.3:p.Gly261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394634.7:c.782G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000204.5:c.782G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378130.2:p.Gly261Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000195.3:p.Gly261Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}