{
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  "@id": "http://reg.genome.network/allele/CA259987",
  "communityStandardTitle": [
    "NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40028[alleleid]",
        "alleleId": 40028,
        "preferredName": "NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31071",
        "RCV": [
          "RCV000024065",
          "RCV000629328"
        ],
        "variationId": 31071
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78055819C>T?assembly=hg19",
        "id": "chr17:g.78055819C>T"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80082020C>T?assembly=hg38",
        "id": "chr17:g.80082020C>T"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907092",
        "rs": 387907092
      }
    ],
    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/17-80082020-C-T?dataset=gnomad_r4",
        "id": "17-80082020-C-T",
        "variant": "17:80082020 C / T"
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    {
      "chromosome": "17",
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      ],
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        "CM000679.2:g.80082020C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
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        {
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          "start": 75670413
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        "NC_000017.9:g.75670414C>T"
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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      ],
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        "NG_029761.1:g.50389C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS004637"
    }
  ],
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    {
      "coordinates": [
        {
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        }
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      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.9:c.1951C>T"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS753657",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_017950.4:c.1951C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270463"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 1977
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "C",
          "start": 577
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      ],
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      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000572253.5:n.578C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS382846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1487
        }
      ],
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      "hgvs": [
        "ENST00000574799.5:n.1488C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS383838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826327193",
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259988",
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
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        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 2018
        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS092082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Gln258Ter",
        "hgvsWellDefined": "XP_011523266.1:p.Gln258_Ser749delinsLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524965.1:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523267.1:p.Gln651Ter",
        "hgvsWellDefined": "XP_011523267.1:p.Gln651_Leu720delinsLeuIleLeuArgLeuGlnLysGluLysThrAsnMetPheProGluGluGlySerLysGluSerTrpThrAsnThrPheValTyrTyrAspAsnPheProThrAspAlaSerProAlaAlaGluLysSerThrProAspThrMetPheGluLeuLeuLysAlaSerTrpAlaAspArgArgAlaAlaLeuAlaThrProLeuGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.1:n.1982C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2019,
          "referenceAllele": "C",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.3:c.1861C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Gln621Ter",
        "hgvsWellDefined": "XP_011523265.1:p.Gln621_Ser1112delinsLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.3:c.772C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Gln258Ter",
        "hgvsWellDefined": "XP_011523266.1:p.Gln258_Ser749delinsLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524965.3:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523267.1:p.Gln651Ter",
        "hgvsWellDefined": "XP_011523267.1:p.Gln651_Leu720delinsLeuIleLeuArgLeuGlnLysGluLysThrAsnMetPheProGluGluGlySerLysGluSerTrpThrAsnThrPheValTyrTyrAspAsnPheProThrAspAlaSerProAlaAlaGluLysSerThrProAspThrMetPheGluLeuLeuLysAlaSerTrpAlaAspArgArgAlaAlaLeuAlaThrProLeuGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_017024807.1:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880296.1:p.Gln651Ter",
        "hgvsWellDefined": "XP_016880296.1:p.Gln651_Arg816delinsLeuIleLeuArgLeuGlnLysGluLysThrAsnMetPheProGluGluGlySerLysGluSerTrpThrAsnThrPheValTyrTyrAspAsnPheProThrAspAlaSerProAlaAlaGluLysSerThrProAspThrMetPheGluLeuLeuLysAlaSerTrpAlaAspArgSerPheGlyHisThrIleAlaAlaValThrAlaThrAlaSerLeuLeuIleIleThrAsnValLeuSerIleAsnProProLeuProGluGlyIleGlnSerLeuSerAsnAlaSerLysGluProThrGluGluAlaSerThrGlyGlySerAspLeuProAspSerArgArgGlyGlnAsnAlaTrpArgAsnGlnCysLeuThrIleAlaSerCysPheIleAsnTyrAlaAlaAsnValIleGluTyrSerThrAlaIleThrAlaTyrArgAlaGlnGluHisLysThrArgLeuThrArgLeuLysSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2545,
          "referenceAllele": "C",
          "start": 2544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_024450821.1:c.1861C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306589.1:p.Gln621Ter",
        "hgvsWellDefined": "XP_024306589.1:p.Gln621_Ser1112delinsLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_001752550.2:n.1982C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.2:n.1982C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259988",
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.4:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Gln651Ter",
        "hgvsWellDefined": "NP_060420.2:p.Gln651_Ser1142delinsLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.1951C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.1951C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Gln651Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Gln651Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826327193",
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001243342.2:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230271.1:p.Gln651Ter",
        "hgvsWellDefined": "NP_001230271.1:p.Gln651_Ala1030delinsLeuIleLeuArgLeuGlnLysGluLysThrAsnMetMetThrHisLeuSerLysIleAsnGlyAspIleAlaGlnThrThrLeuAspIleThrHisThrSerSerArgLeuAspAlaHisGlnLysThrLeuValGluLeuAspGlnAspValLysLysValAsnGluLeuIleThrAsnSerGlnSerGluIleSerArgArgThrIleLeuIleGluArgLysGlnGlyLeuIleAsnPheLeuAsnLysGlnLeuGluArgMetValSerGluLeuGlyGlyGluGluValGlyProLeuGluLeuGluIleLysArgLeuSerLysLeuIleAspGluHisAspGlyLysAlaValGlnAlaGlnValThrTrpLeuArgLeuGlnGlnGluMetValLysValThrGlnGluGlnGluGluGlnLeuAlaSerLeuAspAlaSerLysLysGluLeuHisIleMetGluGlnLysLysLeuArgValGluSerLysIleGluGlnGluLysLysGluGlnLysGluIleGluHisHisMetLysAspLeuAspAsnAspLeuLysLysLeuAsnMetLeuMetAsnLysAsnArgCysSerSerGluGluLeuGluGlnAsnAsnArgValThrGluAsnGluPheValArgSerLeuLysAlaSerGluArgGluThrIleLysMetGlnAspLysLeuAsnGlnLeuSerGluGluLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysLysTyrCysArgThrThrGlnAspAlaHisArgHisValHisGluGlnHisGlyThrHisAlaGlyThrCysThrLysAsnThrGlyArgAlaGlnAlaArgAlaArgThrThrArgAspAlaArgGlyHisValHisGluGlnHisGlyThrArgAlaGlyThrCysThrAsnAsnThrGlyArgAlaGlnAlaArgAlaArgThrArgAspAlaArgArgHisValHisGluHisArgThrHisThrAlaArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714473"
    }
  ],
  "type": "nucleotide"
}