{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144886",
  "communityStandardTitle": [
    "NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76993[alleleid]",
        "alleleId": 76993,
        "preferredName": "NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66091",
        "RCV": [
          "RCV000056328",
          "RCV000604628",
          "RCV000622490",
          "RCV001837446"
        ],
        "variationId": 66091
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-99347158-G-A",
        "id": "6-99347158-G-A",
        "variant": "6:99347158 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.99347158G>A?assembly=hg19",
        "id": "chr6:g.99347158G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.98899282G>A?assembly=hg38",
        "id": "chr6:g.98899282G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201889294",
        "rs": 201889294
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-99347158-G-A?dataset=gnomad_r2_1",
        "id": "6-99347158-G-A",
        "variant": "6:99347158 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98899282-G-A?dataset=gnomad_r3",
        "id": "6-98899282-G-A",
        "variant": "6:98899282 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98899282-G-A?dataset=gnomad_r4",
        "id": "6-98899282-G-A",
        "variant": "6:98899282 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 98899282,
          "referenceAllele": "G",
          "start": 98899281
        }
      ],
      "hgvs": [
        "NC_000006.12:g.98899282G>A",
        "CM000668.2:g.98899282G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 99347158,
          "referenceAllele": "G",
          "start": 99347157
        }
      ],
      "hgvs": [
        "NC_000006.11:g.99347158G>A",
        "CM000668.1:g.99347158G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 99453879,
          "referenceAllele": "G",
          "start": 99453878
        }
      ],
      "hgvs": [
        "NC_000006.10:g.99453879G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53725,
          "referenceAllele": "C",
          "start": 53724
        }
      ],
      "hgvs": [
        "NG_033903.1:g.53725C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005589"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1752,
          "referenceAllele": "C",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.7:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Arg435Ter",
        "hgvsWellDefined": "ENSP00000358247.1:p.Arg435_Gln621delinsThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1303C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1303C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Arg435Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Arg435Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000229971.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229971.1:p.Arg435Ter",
        "hgvsWellDefined": "ENSP00000229971.1:p.Arg435_Gln621delinsThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1732,
          "referenceAllele": "C",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.6:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Arg435Ter",
        "hgvsWellDefined": "ENSP00000358247.1:p.Arg435_Gln621delinsThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144887",
      "coordinates": [
        {
          "allele": "T",
          "end": 1812,
          "referenceAllele": "C",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Arg435Ter",
        "hgvsWellDefined": "NP_001265645.1:p.Arg435_Gln621delinsThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144888",
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.4:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Arg435Ter",
        "hgvsWellDefined": "NP_036292.2:p.Arg435_Gln621delinsThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "C",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.1:n.1348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "C",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103837.1:n.1348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1800,
          "referenceAllele": "C",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Arg435Ter",
        "hgvsWellDefined": "XP_005266987.1:p.Arg435_Gln597delinsThrLysValGluIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.3:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Arg435Ter",
        "hgvsWellDefined": "XP_005266987.1:p.Arg435_Gln597delinsThrLysValGluIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1626,
          "referenceAllele": "C",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010726.1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866215.1:p.Arg435Ter",
        "hgvsWellDefined": "XP_016866215.1:p.Arg435_Gln621delinsThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010727.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866216.1:p.Arg435Ter",
        "hgvsWellDefined": "XP_016866216.1:p.Arg435_Gln597delinsThrLysValGluIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1888,
          "referenceAllele": "C",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010728.1:c.577C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866217.1:p.Arg193Ter",
        "hgvsWellDefined": "XP_016866217.1:p.Arg193_Gln379delinsThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144887",
      "coordinates": [
        {
          "allele": "T",
          "end": 1752,
          "referenceAllele": "C",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Arg435Ter",
        "hgvsWellDefined": "NP_001265645.1:p.Arg435_Gln621delinsThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1303C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1303C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Arg435Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Arg435Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.2:n.1288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103837.2:n.1288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144888",
      "coordinates": [
        {
          "allele": "T",
          "end": 1634,
          "referenceAllele": "C",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Arg435Ter",
        "hgvsWellDefined": "NP_036292.2:p.Arg435_Gln621delinsThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}