{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357861896",
  "communityStandardTitle": [
    "NM_000204.5(CFI):c.728G>T (p.Gly243Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4393020[alleleid]",
        "alleleId": 4393020,
        "preferredName": "NM_000204.5(CFI):c.728G>T (p.Gly243Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4280479",
        "RCV": [
          "RCV005864894"
        ],
        "variationId": 4280479
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.110681723C>A?assembly=hg19",
        "id": "chr4:g.110681723C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.109760567C>A?assembly=hg38",
        "id": "chr4:g.109760567C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964916",
        "rs": 121964916
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-110681723-C-A?dataset=gnomad_r2_1",
        "id": "4-110681723-C-A",
        "variant": "4:110681723 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-109760567-C-A?dataset=gnomad_r4",
        "id": "4-109760567-C-A",
        "variant": "4:109760567 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 109760567,
          "referenceAllele": "C",
          "start": 109760566
        }
      ],
      "hgvs": [
        "NC_000004.12:g.109760567C>A",
        "CM000666.2:g.109760567C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 110681723,
          "referenceAllele": "C",
          "start": 110681722
        }
      ],
      "hgvs": [
        "NC_000004.11:g.110681723C>A",
        "CM000666.1:g.110681723C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 110901172,
          "referenceAllele": "C",
          "start": 110901171
        }
      ],
      "hgvs": [
        "NC_000004.10:g.110901172C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46419,
          "referenceAllele": "G",
          "start": 46418
        }
      ],
      "hgvs": [
        "NG_007569.1:g.46419G>T",
        "LRG_48:g.46419G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000655"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000695844.1:n.907G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "G",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000695845.1:n.906G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000695846.1:n.728G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000394634.7:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378130.2:p.Gly243Val",
        "hgvsWellDefined": "ENSP00000378130.2:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394634.7:c.728G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000204.5:c.728G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378130.2:p.Gly243Val"
          },
          "RefSeq": {
            "hgvs": "NP_000195.3:p.Gly243Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000394635.8:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378131.3:p.Gly243Val",
        "hgvsWellDefined": "ENSP00000378131.3:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "hgvs": [
        "ENST00000645635.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493607.1:p.Gly243Val",
        "hgvsWellDefined": "ENSP00000493607.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000394634.6:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378130.2:p.Gly243Val",
        "hgvsWellDefined": "ENSP00000378130.2:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000394635.7:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378131.3:p.Gly243Val",
        "hgvsWellDefined": "ENSP00000378131.3:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000504853.3:n.1145G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "G",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000512148.5:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427438.1:p.Gly243Val",
        "hgvsWellDefined": "ENSP00000427438.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "ENST00000618244.4:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483416.1:p.Gly243Val",
        "hgvsWellDefined": "ENSP00000483416.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_000204.3:c.728G>T",
        "LRG_48t1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000195.2:p.Gly243Val",
        "hgvsWellDefined": "NP_000195.2:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_005262975.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263032.1:p.Gly243Val",
        "hgvsWellDefined": "XP_005263032.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_005262976.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263033.1:p.Gly243Val",
        "hgvsWellDefined": "XP_005263033.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_006714209.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714272.1:p.Gly243Val",
        "hgvsWellDefined": "XP_006714272.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_006714210.2:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714273.1:p.Gly243Val",
        "hgvsWellDefined": "XP_006714273.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_011531920.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530222.1:p.Gly243Val",
        "hgvsWellDefined": "XP_011530222.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_000204.4:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000195.2:p.Gly243Val",
        "hgvsWellDefined": "NP_000195.2:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001318057.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304986.1:p.Gly243Val",
        "hgvsWellDefined": "NP_001304986.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001331035.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317964.1:p.Gly243Val",
        "hgvsWellDefined": "NP_001317964.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_006714210.4:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714273.1:p.Gly243Val",
        "hgvsWellDefined": "XP_006714273.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_011531920.2:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530222.1:p.Gly243Val",
        "hgvsWellDefined": "XP_011530222.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_017008164.2:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863653.1:p.Gly243Val",
        "hgvsWellDefined": "XP_016863653.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_017008165.2:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863654.1:p.Gly243Val",
        "hgvsWellDefined": "XP_016863654.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "XM_017008166.2:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863655.1:p.Gly243Val",
        "hgvsWellDefined": "XP_016863655.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001318057.2:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304986.2:p.Gly243Val",
        "hgvsWellDefined": "NP_001304986.2:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001331035.2:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317964.1:p.Gly243Val",
        "hgvsWellDefined": "NP_001317964.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375278.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362207.1:p.Gly243Val",
        "hgvsWellDefined": "NP_001362207.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375279.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362208.1:p.Gly243Val",
        "hgvsWellDefined": "NP_001362208.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375280.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362209.1:p.Gly243Val",
        "hgvsWellDefined": "NP_001362209.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375281.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362210.1:p.Gly243Val",
        "hgvsWellDefined": "NP_001362210.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375282.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362211.1:p.Gly243Val",
        "hgvsWellDefined": "NP_001362211.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693443"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3089199657",
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375283.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362212.1:p.Gly243Val",
        "hgvsWellDefined": "NP_001362212.1:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "referenceAllele": "G",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_001375284.1:c.119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362213.1:p.Gly40Val",
        "hgvsWellDefined": "NP_001362213.1:p.Gly40Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NR_164671.1:n.756G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NR_164672.1:n.756G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NR_164673.1:n.756G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705767"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069888210",
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NM_000204.5:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000195.3:p.Gly243Val",
        "hgvsWellDefined": "NP_000195.3:p.Gly243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394634.7:c.728G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000204.5:c.728G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378130.2:p.Gly243Val"
          },
          "RefSeq": {
            "hgvs": "NP_000195.3:p.Gly243Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}