{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16608474",
  "communityStandardTitle": [
    "NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378330[alleleid]",
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        "preferredName": "NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/391218",
        "RCV": [
          "RCV000428470",
          "RCV000622544",
          "RCV001618684",
          "RCV003985350"
        ],
        "variationId": 391218
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.49509038G>C?assembly=hg19",
        "id": "chr20:g.49509038G>C"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr20:g.50892501G>C?assembly=hg38",
        "id": "chr20:g.50892501G>C"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/779340209",
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    },
    {
      "chromosome": "20",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750822"
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      "referenceSequence": "http://reg.genome.network/refseq/RS753471"
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      "referenceSequence": "http://reg.genome.network/refseq/RS753472"
    },
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        "hgvsWellDefined": "ENSP00000360662.2:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2808,
          "referenceAllele": "C",
          "start": 2807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396029.7:c.2213C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000379346.3:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2383,
          "referenceAllele": "C",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
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      "hgvs": [
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        "hgvsWellDefined": "ENSP00000379349.2:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277051"
    },
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      "coordinates": [
        {
          "allele": "G",
          "end": 2642,
          "referenceAllele": "C",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649268",
      "coordinates": [
        {
          "allele": "G",
          "end": 2642,
          "referenceAllele": "C",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001269460.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649804",
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001269461.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645496095",
      "coordinates": [
        {
          "allele": "G",
          "end": 2558,
          "referenceAllele": "C",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077310",
      "coordinates": [
        {
          "allele": "G",
          "end": 2383,
          "referenceAllele": "C",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.2:c.2213C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_852107.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528747.1:c.2213C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011527049.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2308,
          "referenceAllele": "C",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528748.1:c.2240C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527050.1:p.Ser747Ter",
        "hgvsWellDefined": "XP_011527050.1:p.Ser747_Ala1111delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649268",
      "coordinates": [
        {
          "allele": "G",
          "end": 2865,
          "referenceAllele": "C",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282531.2:c.2213C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269460.1:p.Ser738Ter",
        "hgvsWellDefined": "NP_001269460.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827400235",
      "coordinates": [
        {
          "allele": "G",
          "end": 2690,
          "referenceAllele": "C",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001347511.1:c.2213C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001334440.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645496095",
      "coordinates": [
        {
          "allele": "G",
          "end": 2781,
          "referenceAllele": "C",
          "start": 2780
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077310",
      "coordinates": [
        {
          "allele": "G",
          "end": 2606,
          "referenceAllele": "C",
          "start": 2605
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      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_852107.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2735,
          "referenceAllele": "C",
          "start": 2734
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        "hgvsWellDefined": "XP_011527049.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2292,
          "referenceAllele": "C",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011527050.1:p.Ser747_Ala1111delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3448,
          "referenceAllele": "C",
          "start": 3447
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      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
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        "hgvsWellDefined": "XP_016883247.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2318,
          "referenceAllele": "C",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
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        "hgvsWellDefined": "XP_016883248.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649268",
      "coordinates": [
        {
          "allele": "G",
          "end": 3089,
          "referenceAllele": "C",
          "start": 3088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001269460.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000621696.5:c.2213C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001282531.3:c.2213C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483881.1:p.Ser738Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001269460.1:p.Ser738Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827400235",
      "coordinates": [
        {
          "allele": "G",
          "end": 2914,
          "referenceAllele": "C",
          "start": 2913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001347511.2:c.2213C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001334440.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645496095",
      "coordinates": [
        {
          "allele": "G",
          "end": 3005,
          "referenceAllele": "C",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_015339.5:c.2213C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_056154.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077310",
      "coordinates": [
        {
          "allele": "G",
          "end": 2830,
          "referenceAllele": "C",
          "start": 2829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.4:c.2213C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852107.1:p.Ser738Ter",
        "hgvsWellDefined": "NP_852107.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649804",
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282532.2:c.2213C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269461.1:p.Ser738Ter",
        "hgvsWellDefined": "NP_001269461.1:p.Ser738_Ala1102delinsProSerPhePheGluGluLysProGluGluProValValLeuAlaLeuAspProLysGlyHisGluAspAspSerTyrGluAlaArgLysSerPheLeuThrLysTyrPheAsnLysGlnProTyrProThrArgArgGluIleGluLysLeuAlaAlaSerLeuTrpLeuTrpLysSerAspIleAlaSerHisPheSerAsnLysArgLysLysCysValArgAspCysGluLysTyrLysProGlyValLeuLeuGlyPheAsnMetLysGluLeuAsnLysValLysHisGluMetAspPheAspAlaGluTrpLeuPheGluAsnHisAspGluLysAspSerArgValAsnAlaSerLysThrAlaAspLysLysLeuAsnLeuGlyLysGluAspAspSerSerSerAspSerPheGluAsnLeuGluGluGluSerAsnGluSerGlySerProPheAspProValPheGluValGluProLysIleSerAsnAspAsnProGluGluHisValLeuLysValIleProGluAspAlaSerGluSerGluGluLysLeuAspGlnLysGluAspGlySerLysTyrGluThrIleHisLeuThrGluGluProThrLysLeuMetHisAsnAlaSerAspSerGluValAspGlnAspAspValValGluTrpLysAspGlyAlaSerProSerGluSerGlyProGlySerGlnGlnValSerAspPheGluAspAsnThrCysGluMetLysProGlyThrTrpSerAspGluSerSerGlnSerGluAspAlaArgSerSerLysProAlaAlaLysLysLysAlaThrMetGlnGlyAspArgGluGlnLeuLysTrpLysAsnSerSerTyrGlyLysValGluGlyPheTrpSerLysAspGlnSerGlnTrpLysAsnAlaSerGluAsnAspGluArgLeuSerAsnProGlnIleGluTrpGlnAsnSerThrIleAspSerGluAspGlyGluGlnPheAspAsnMetThrAspGlyValAlaGluProMetHisGlySerLeuAlaGlyValLysLeuSerSerGlnGlnAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715832"
    }
  ],
  "type": "nucleotide"
}