{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377591666",
  "communityStandardTitle": [
    "NM_004523.4(KIF11):c.1345C>T (p.Gln449Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3222552[alleleid]",
        "alleleId": 3222552,
        "preferredName": "NM_004523.4(KIF11):c.1345C>T (p.Gln449Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3062326",
        "RCV": [
          "RCV003986048"
        ],
        "variationId": 3062326
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94389972C>T?assembly=hg19",
        "id": "chr10:g.94389972C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.92630215C>T?assembly=hg38",
        "id": "chr10:g.92630215C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2492515124",
        "rs": 2492515124
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-92630215-C-T?dataset=gnomad_r4",
        "id": "10-92630215-C-T",
        "variant": "10:92630215 C / T"
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    ]
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  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "hgvs": [
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        "CM000672.2:g.92630215C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94389972,
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      "hgvs": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94379952,
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          "start": 94379951
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      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
        "NG_032580.1:g.42148C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS005174"
    }
  ],
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      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS742062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000260731.5:c.1345C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004523.4:c.1345C>T"
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        "protein": {
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            "hgvs": "ENSP00000260731.3:p.Gln449Ter"
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          "RefSeq": {
            "hgvs": "NP_004514.2:p.Gln449Ter"
          }
        }
      }
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    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676621.1:c.1345C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000503639.1:p.Gln449_Glu533delinsCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysSerLeuSerLeuSerProArgLeuGluTrpGlnTrpHisAsnLeuTrpLeuThrAlaThrSerThrSerGlnValGlnAlaIleLeuLeuProGlnProLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "C",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676647.1:c.1138C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000503394.1:p.Gln380Ter",
        "hgvsWellDefined": "ENSP00000503394.1:p.Gln380_Leu987delinsCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1357,
          "referenceAllele": "C",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
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      "geneSymbol": "KIF11",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000504289.1:p.Gln380Ter",
        "hgvsWellDefined": "ENSP00000504289.1:p.Gln380_Leu987delinsCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000677720.1:c.1345C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504840.1:p.Gln449Ter",
        "hgvsWellDefined": "ENSP00000504840.1:p.Gln449_Asn673delinsCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysLysIleLysLysArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000260731.4:c.1345C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000260731.3:p.Gln449Ter",
        "hgvsWellDefined": "ENSP00000260731.3:p.Gln449_Leu1056delinsCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741912710",
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "NM_004523.3:c.1345C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004514.2:p.Gln449Ter",
        "hgvsWellDefined": "NP_004514.2:p.Gln449_Leu1056delinsCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741912710",
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "C",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "NM_004523.4:c.1345C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004514.2:p.Gln449Ter",
        "hgvsWellDefined": "NP_004514.2:p.Gln449_Leu1056delinsCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260731.5:c.1345C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004523.4:c.1345C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260731.3:p.Gln449Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004514.2:p.Gln449Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}