{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346951",
  "communityStandardTitle": [
    "NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205563[alleleid]",
        "alleleId": 205563,
        "preferredName": "NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/209002",
        "RCV": [
          "RCV000074371",
          "RCV001386656"
        ],
        "variationId": 209002
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-33974609-G-C",
        "id": "21-33974609-G-C",
        "variant": "21:33974609 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.33974609G>C?assembly=hg19",
        "id": "chr21:g.33974609G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.32602299G>C?assembly=hg38",
        "id": "chr21:g.32602299G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202094637",
        "rs": 202094637
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-33974609-G-C?dataset=gnomad_r2_1",
        "id": "21-33974609-G-C",
        "variant": "21:33974609 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-32602299-G-C?dataset=gnomad_r3",
        "id": "21-32602299-G-C",
        "variant": "21:32602299 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-32602299-G-C?dataset=gnomad_r4",
        "id": "21-32602299-G-C",
        "variant": "21:32602299 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 32602299,
          "referenceAllele": "G",
          "start": 32602298
        }
      ],
      "hgvs": [
        "NC_000021.9:g.32602299G>C",
        "CM000683.2:g.32602299G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 33974609,
          "referenceAllele": "G",
          "start": 33974608
        }
      ],
      "hgvs": [
        "NC_000021.8:g.33974609G>C",
        "CM000683.1:g.33974609G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 32896480,
          "referenceAllele": "G",
          "start": 32896479
        }
      ],
      "hgvs": [
        "NC_000021.7:g.32896480G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15310,
          "referenceAllele": "C",
          "start": 15309
        }
      ],
      "hgvs": [
        "NG_033839.1:g.15310C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15310,
          "referenceAllele": "C",
          "start": 15309
        }
      ],
      "hgvs": [
        "NG_033839.2:g.15310C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616357"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "ENST00000290155.8:c.735C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290155.3:p.Tyr245Ter",
        "hgvsWellDefined": "ENSP00000290155.3:p.Tyr246_Arg290delinsHisArgArgGlnGluGluLeuLysArgLeuGluGluAsnAspAspAspAlaTyrLeuAsnSerProTrpAlaAspAsnThrAlaLeuLysArgHisPheHisGlyValLysAspIleLysTrpArgProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744004",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290155.8:c.735C>G"
          },
          "RefSeq": {
            "hgvs": "NM_021254.4:c.735C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290155.3:p.Tyr245Ter"
          },
          "RefSeq": {
            "hgvs": "NP_067077.1:p.Tyr245Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 378,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000553001.2:c.378+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446874.2:n.378+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 814,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673072.2:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500800.2:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 780,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 780,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673633.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501272.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 441,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673672.1:n.441+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 193,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 193,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673694.1:c.193+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 991,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 991,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673722.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501143.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 795,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 795,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673727.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501061.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 200,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673740.1:c.200+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 519,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 519,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673799.1:n.519+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 1288,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673807.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501088.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "endIntronDirection": "+",
          "endIntronOffset": 1826,
          "referenceAllele": "C",
          "start": 209,
          "startIntronDirection": "+",
          "startIntronOffset": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673870.1:c.209+1826C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 801,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673879.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500977.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 787,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 787,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673900.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501184.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 958,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 958,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673945.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501020.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 434,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 434,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673979.1:n.434+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 52,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 52,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673984.1:c.52+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 1009,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000673985.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500984.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 804,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 804,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000674025.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501264.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 803,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000674042.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501000.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 978,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000674072.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501221.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 978,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000674122.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501276.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 1033,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000674123.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501038.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "ENST00000290155.7:c.735C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290155.3:p.Tyr245Ter",
        "hgvsWellDefined": "ENSP00000290155.3:p.Tyr246_Arg290delinsHisArgArgGlnGluGluLeuLysArgLeuGluGluAsnAspAspAspAlaTyrLeuAsnSerProTrpAlaAspAsnThrAlaLeuLysArgHisPheHisGlyValLysAspIleLysTrpArgProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "ENST00000300260.7:c.*250C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300260.7:n.*250C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "ENST00000382549.8:c.*790C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371989.4:n.*790C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "ENST00000425336.1:c.277C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000431216.5:c.638C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 77,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "ENST00000431599.1:c.77+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "endIntronDirection": "-",
          "endIntronOffset": 325,
          "referenceAllele": "C",
          "start": 775,
          "startIntronDirection": "-",
          "startIntronOffset": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "ENST00000440966.5:c.667-326C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411467.1:n.667-326C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "ENST00000483315.1:n.1383C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 704,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 704,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "ENST00000553001.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446874.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA346952",
      "coordinates": [
        {
          "allele": "G",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_021254.2:c.735C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_067077.1:p.Tyr245Ter",
        "hgvsWellDefined": "NP_067077.1:p.Tyr246_Arg290delinsHisArgArgGlnGluGluLeuLysArgLeuGluGluAsnAspAspAspAlaTyrLeuAsnSerProTrpAlaAspAsnThrAlaLeuLysArgHisPheHisGlyValLysAspIleLysTrpArgProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NR_036552.1:n.1027C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827520269",
      "coordinates": [
        {
          "allele": "G",
          "end": 1295,
          "referenceAllele": "C",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_001350334.1:c.438C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337263.1:p.Tyr146Ter",
        "hgvsWellDefined": "NP_001337263.1:p.Tyr147_Arg191delinsHisArgArgGlnGluGluLeuLysArgLeuGluGluAsnAspAspAspAlaTyrLeuAsnSerProTrpAlaAspAsnThrAlaLeuLysArgHisPheHisGlyValLysAspIleLysTrpArgProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "C",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_001350335.1:c.*790C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337264.1:n.*790C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "endIntronDirection": "-",
          "endIntronOffset": 325,
          "referenceAllele": "C",
          "start": 1294,
          "startIntronDirection": "-",
          "startIntronOffset": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_001350336.1:c.667-326C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337265.1:n.667-326C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827520498",
      "coordinates": [
        {
          "allele": "G",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_001350337.1:c.735C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337266.1:p.Tyr245Ter",
        "hgvsWellDefined": "NP_001337266.1:p.Tyr246_Thr269delinsHisArgArgGlnGluGluLeuLysValAlaGlyAspArgTrpAlaPheCysSerAlaGlyAlaHisThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 1294,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "NM_001350338.1:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337267.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA346952",
      "coordinates": [
        {
          "allele": "G",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_021254.3:c.735C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_067077.1:p.Tyr245Ter",
        "hgvsWellDefined": "NP_067077.1:p.Tyr246_Arg290delinsHisArgArgGlnGluGluLeuLysArgLeuGluGluAsnAspAspAspAlaTyrLeuAsnSerProTrpAlaAspAsnThrAlaLeuLysArgHisPheHisGlyValLysAspIleLysTrpArgProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 1294,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "NR_146638.1:n.1294+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 1294,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "NR_146639.1:n.1294+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA346952",
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_021254.4:c.735C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_067077.1:p.Tyr245Ter",
        "hgvsWellDefined": "NP_067077.1:p.Tyr246_Arg290delinsHisArgArgGlnGluGluLeuLysArgLeuGluGluAsnAspAspAspAlaTyrLeuAsnSerProTrpAlaAspAsnThrAlaLeuLysArgHisPheHisGlyValLysAspIleLysTrpArgProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670274",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290155.8:c.735C>G"
          },
          "RefSeq": {
            "hgvs": "NM_021254.4:c.735C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290155.3:p.Tyr245Ter"
          },
          "RefSeq": {
            "hgvs": "NP_067077.1:p.Tyr245Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827520269",
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_001350334.2:c.438C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337263.1:p.Tyr146Ter",
        "hgvsWellDefined": "NP_001337263.1:p.Tyr147_Arg191delinsHisArgArgGlnGluGluLeuLysArgLeuGluGluAsnAspAspAspAlaTyrLeuAsnSerProTrpAlaAspAsnThrAlaLeuLysArgHisPheHisGlyValLysAspIleLysTrpArgProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "endIntronDirection": "-",
          "endIntronOffset": 325,
          "referenceAllele": "C",
          "start": 800,
          "startIntronDirection": "-",
          "startIntronOffset": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_001350336.2:c.667-326C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337265.1:n.667-326C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827520498",
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_001350337.2:c.735C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337266.1:p.Tyr245Ter",
        "hgvsWellDefined": "NP_001337266.1:p.Tyr246_Thr269delinsHisArgArgGlnGluGluLeuLysValAlaGlyAspArgTrpAlaPheCysSerAlaGlyAlaHisThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 800,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "NM_001350338.2:c.666+862C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337267.1:n.666+862C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 800,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "NR_146638.2:n.800+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "endIntronDirection": "+",
          "endIntronOffset": 862,
          "referenceAllele": "C",
          "start": 800,
          "startIntronDirection": "+",
          "startIntronOffset": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054636",
      "geneNCBI_id": 110091775,
      "geneSymbol": "CFAP298-TCP10L",
      "hgvs": [
        "NR_146639.2:n.800+862C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001301",
      "geneNCBI_id": 56683,
      "geneSymbol": "CFAP298",
      "hgvs": [
        "NM_001350335.2:c.*790C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337264.1:n.*790C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719523"
    }
  ],
  "type": "nucleotide"
}