{
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  "@id": "http://reg.genome.network/allele/CA16605252",
  "communityStandardTitle": [
    "NM_014141.6(CNTNAP2):c.1076C>G (p.Ser359Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=369548[alleleid]",
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        "preferredName": "NM_014141.6(CNTNAP2):c.1076C>G (p.Ser359Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379816",
        "RCV": [
          "RCV000421673"
        ],
        "variationId": 379816
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.146825921C>G?assembly=hg19",
        "id": "chr7:g.146825921C>G"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.147128829C>G?assembly=hg38",
        "id": "chr7:g.147128829C>G"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520743",
        "rs": 1057520743
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    ]
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    },
    {
      "chromosome": "7",
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS673478"
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      "referenceSequence": "http://reg.genome.network/refseq/RS749527",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
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        }
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      "coordinates": [
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          "allele": "G",
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          "start": 978
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      "gene": "http://reg.genome.network/gene/GN013830",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS763207"
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    {
      "coordinates": [
        {
          "allele": "G",
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      "gene": "http://reg.genome.network/gene/GN013830",
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      "referenceSequence": "http://reg.genome.network/refseq/RS763445"
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      "referenceSequence": "http://reg.genome.network/refseq/RS763649"
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      "referenceSequence": "http://reg.genome.network/refseq/RS764043"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS764137"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS764351"
    },
    {
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645430938",
      "coordinates": [
        {
          "allele": "G",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
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      "hgvs": [
        "NM_014141.5:c.1076C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_054860.1:p.Ser359_Ile1331delinsAsnValGlyAsnLeuSerPheSerCysValGluProTyrThrValProValPhePheAsnAlaThrSerTyrLeuGluValProGlyArgLeuAsnGlnAspLeuPheSerValSerPheGlnPheArgThrTrpAsnProAsnGlyLeuLeuValPheSerHisPheAlaAspAsnLeuGlyAsnValGluIleAspLeuThrGluSerLysValGlyValHisIleAsnIleThrGlnThrLysMetSerGlnIleAspIleSerSerGlySerGlyLeuAsnAspGlyGlnTrpHisGluValArgPheLeuAlaLysGluAsnPheAlaIleLeuThrIleAspGlyAspGluAlaSerAlaValArgThrAsnSerProLeuGlnValLysThrGlyGluLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProAspGlySerProTyrThrTrpTrpValGlyLysAlaAsnGluLysHisTyrTyrTrpGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016867439.1:p.Ser359Ter",
        "hgvsWellDefined": "XP_016867439.1:p.Ser359_Gly714delinsAsnValGlyAsnLeuSerPheSerCysValGluProTyrThrValProValPhePheAsnAlaThrSerTyrLeuGluValProGlyArgLeuAsnGlnAspLeuPheSerValSerPheGlnPheArgThrTrpAsnProAsnGlyLeuLeuValPheSerHisPheAlaAspAsnLeuGlyAsnValGluIleAspLeuThrGluSerLysValGlyValHisIleAsnIleThrGlnThrLysMetSerGlnIleAspIleSerSerGlySerGlyLeuAsnAspGlyGlnTrpHisGluValArgPheLeuAlaLysGluAsnPheAlaIleLeuThrIleAspGlyAspGluAlaSerAlaValArgThrAsnSerProLeuGlnValLysThrGlyGluLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProGlyLeuLeuIleCysArgIleAlaAspAlaArgLysArgSerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645430938",
      "coordinates": [
        {
          "allele": "G",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013830",
      "geneNCBI_id": 26047,
      "geneSymbol": "CNTNAP2",
      "hgvs": [
        "NM_014141.6:c.1076C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054860.1:p.Ser359Ter",
        "hgvsWellDefined": "NP_054860.1:p.Ser359_Ile1331delinsAsnValGlyAsnLeuSerPheSerCysValGluProTyrThrValProValPhePheAsnAlaThrSerTyrLeuGluValProGlyArgLeuAsnGlnAspLeuPheSerValSerPheGlnPheArgThrTrpAsnProAsnGlyLeuLeuValPheSerHisPheAlaAspAsnLeuGlyAsnValGluIleAspLeuThrGluSerLysValGlyValHisIleAsnIleThrGlnThrLysMetSerGlnIleAspIleSerSerGlySerGlyLeuAsnAspGlyGlnTrpHisGluValArgPheLeuAlaLysGluAsnPheAlaIleLeuThrIleAspGlyAspGluAlaSerAlaValArgThrAsnSerProLeuGlnValLysThrGlyGluLysTyrPhePheGlyGlyPheLeuAsnGlnMetAsnAsnSerSerHisSerValLeuGlnProSerPheGlnGlyCysMetGlnLeuIleGlnValAspAspGlnLeuValAsnLeuTyrGluValAlaGlnArgLysProGlySerPheAlaAsnValSerIleAspMetCysAlaIleIleAspArgCysValProAsnHisCysGluHisGlyGlyLysCysSerGlnThrTrpAspSerPheLysCysThrCysAspGluThrGlyTyrSerGlyAlaThrCysHisAsnSerIleTyrGluProSerCysGluAlaTyrLysHisLeuGlyGlnThrSerAsnTyrTyrTrpIleAspProAspGlySerGlyProLeuGlyProLeuLysValTyrCysAsnMetThrGluAspLysValTrpThrIleValSerHisAspLeuGlnMetGlnThrProValValGlyTyrAsnProGluLysTyrSerValThrGlnLeuValTyrSerAlaSerMetAspGlnIleSerAlaIleThrAspSerAlaGluTyrCysGluGlnTyrValSerTyrPheCysLysMetSerArgLeuLeuAsnThrProAspGlySerProTyrThrTrpTrpValGlyLysAlaAsnGluLysHisTyrTyrTrpGlyGlySerGlyProGlyIleGlnLysCysAlaCysGlyIleGluArgAsnCysThrAspProLysTyrTyrCysAsnCysAspAlaAspTyrLysGlnTrpArgLysAspAlaGlyPheLeuSerTyrLysAspHisLeuProValSerGlnValValValGlyAspThrAspArgGlnGlySerGluAlaLysLeuSerValGlyProLeuArgCysGlnGlyAspArgAsnTyrTrpAsnAlaAlaSerPheProAsnProSerSerTyrLeuHisPheSerThrPheGlnGlyGluThrSerAlaAspIleSerPheTyrPheLysThrLeuThrProTrpGlyValPheLeuGluAsnMetGlyLysGluAspPheIleLysLeuGluLeuLysSerAlaThrGluValSerPheSerPheAspValGlyAsnGlyProValGluIleValValArgSerProThrProLeuAsnAspAspGlnTrpHisArgValThrAlaGluArgAsnValLysGlnAlaSerLeuGlnValAspArgLeuProGlnGlnIleArgLysAlaProThrGluGlyHisThrArgLeuGluLeuTyrSerGlnLeuPheValGlyGlyAlaGlyGlyGlnGlnGlyPheLeuGlyCysIleArgSerLeuArgMetAsnGlyValThrLeuAspLeuGluGluArgAlaLysValThrSerGlyPheIleSerGlyCysSerGlyHisCysThrSerTyrGlyThrAsnCysGluAsnGlyGlyLysCysLeuGluArgTyrHisGlyTyrSerCysAspCysSerAsnThrAlaTyrAspGlyThrPheCysAsnLysAspValGlyAlaPhePheGluGluGlyMetTrpLeuArgTyrAsnPheGlnAlaProAlaThrAsnAlaArgAspSerSerSerArgValAspAsnAlaProAspGlnGlnAsnSerHisProAspLeuAlaGlnGluGluIleArgPheSerPheSerThrThrLysAlaProCysIleLeuLeuTyrIleSerSerPheThrThrAspPheLeuAlaValLeuValLysProThrGlySerLeuGlnIleArgTyrAsnLeuGlyGlyThrArgGluProTyrAsnIleAspValAspHisArgAsnMetAlaAsnGlyGlnProHisSerValAsnIleThrArgHisGluLysThrIlePheLeuLysLeuAspHisTyrProSerValSerTyrHisLeuProSerSerSerAspThrLeuPheAsnSerProLysSerLeuPheLeuGlyLysValIleGluThrGlyLysIleAspGlnGluIleHisLysTyrAsnThrProGlyPheThrGlyCysLeuSerArgValGlnPheAsnGlnIleAlaProLeuLysAlaAlaLeuArgGlnThrAsnAlaSerAlaHisValHisIleGlnGlyGluLeuValGluSerAsnCysGlyAlaSerProLeuThrLeuSerProMetSerSerAlaThrAspProTrpHisLeuAspHisLeuAspSerAlaSerAlaAspPheProTyrAsnProGlyGlnGlyGlnAlaIleArgAsnGlyValAsnArgAsnSerAlaIleIleGlyGlyValIleAlaValValIlePheThrIleLeuCysThrLeuValPheLeuIleArgTyrMetPheArgHisLysGlyThrTyrHisThrAsnGluAlaLysGlyAlaGluSerAlaGluSerAlaAspAlaAlaIleMetAsnAsnAspProAsnPheThrGluThrIleAspGluSerLysLysGluTrpLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361727.8:c.1076C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014141.6:c.1076C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354778.3:p.Ser359Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054860.1:p.Ser359Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}