{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250339",
  "communityStandardTitle": [
    "NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3079957",
        "active": true,
        "id": "COSM3079957"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205749[alleleid]",
        "alleleId": 205749,
        "preferredName": "NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/209153",
        "RCV": [
          "RCV000191084",
          "RCV000578719",
          "RCV001267292",
          "RCV002273980"
        ],
        "variationId": 209153
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-99374801-G-A",
        "id": "6-99374801-G-A",
        "variant": "6:99374801 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.99374801G>A?assembly=hg19",
        "id": "chr6:g.99374801G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.98926925G>A?assembly=hg38",
        "id": "chr6:g.98926925G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200440128",
        "rs": 200440128
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-99374801-G-A?dataset=gnomad_r2_1",
        "id": "6-99374801-G-A",
        "variant": "6:99374801 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98926925-G-A?dataset=gnomad_r3",
        "id": "6-98926925-G-A",
        "variant": "6:98926925 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-98926925-G-A?dataset=gnomad_r4",
        "id": "6-98926925-G-A",
        "variant": "6:98926925 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 98926925,
          "referenceAllele": "G",
          "start": 98926924
        }
      ],
      "hgvs": [
        "NC_000006.12:g.98926925G>A",
        "CM000668.2:g.98926925G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 99374801,
          "referenceAllele": "G",
          "start": 99374800
        }
      ],
      "hgvs": [
        "NC_000006.11:g.99374801G>A",
        "CM000668.1:g.99374801G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 99481522,
          "referenceAllele": "G",
          "start": 99481521
        }
      ],
      "hgvs": [
        "NC_000006.10:g.99481522G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26082,
          "referenceAllele": "C",
          "start": 26081
        }
      ],
      "hgvs": [
        "NG_033903.1:g.26082C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005589"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.7:c.64C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Arg22Ter",
        "hgvsWellDefined": "ENSP00000358247.1:p.Arg22_Gln621delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.64C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.64C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Arg22Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Arg22Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000229971.2:c.64C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229971.1:p.Arg22Ter",
        "hgvsWellDefined": "ENSP00000229971.1:p.Arg22_Gln621delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "ENST00000369244.6:c.64C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358247.1:p.Arg22Ter",
        "hgvsWellDefined": "ENSP00000358247.1:p.Arg22_Gln621delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA250340",
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.1:c.64C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Arg22Ter",
        "hgvsWellDefined": "NP_001265645.1:p.Arg22_Gln621delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA250341",
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.4:c.64C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Arg22Ter",
        "hgvsWellDefined": "NP_036292.2:p.Arg22_Gln621delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.1:n.455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103837.1:n.455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_005266930.1:c.64C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266987.1:p.Arg22Ter",
        "hgvsWellDefined": "XP_005266987.1:p.Arg22_Gln597delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065238"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011534050.1:p.Arg22_Ile381delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgThrLysLysGluLeuLysLeuMetLysSerValAsnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102751"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011534050.1:p.Arg22_Ile381delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgThrLysLysGluLeuLysLeuMetLysSerValAsnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016866215.1:p.Arg22_Gln621delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS564719"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_016866217.1:n.-739C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS564721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA250340",
      "coordinates": [
        {
          "allele": "T",
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          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001265645.1:p.Arg22_Gln621delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS664186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.64C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.64C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Arg22Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Arg22Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
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          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.2:n.395C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS702882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA250341",
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.64C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Arg22Ter",
        "hgvsWellDefined": "NP_036292.2:p.Arg22_Gln621delinsAlaArgThrAlaThrArgGlyGluMetMetAsnThrHisArgAlaIleGluSerAsnSerGlnThrSerProLeuAsnAlaGluValValGlnTyrAlaLysGluValValAspPheSerSerHisTyrGlySerGluAsnSerMetSerTyrThrMetTrpAsnLeuAlaGlyValProAsnValPheProSerSerGlyAspPheThrGlnThrAlaValPheArgThrTyrGlyThrTrpTrpAspGlnCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}