{
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  "@id": "http://reg.genome.network/allele/CA3052745379",
  "communityStandardTitle": [
    "NM_000015.3(NAT2):c.513_525del (p.Asn172LeufsTer?)"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
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          "allele": "",
          "end": 18302318,
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
          "allele": "",
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      ],
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002314"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 595,
          "referenceAllele": "AAACAAAGAATTT",
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      ],
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      "geneNCBI_id": 10,
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743851",
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        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.513_525del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Asn172LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Asn172LeufsTer?"
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        }
      }
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "AAACAAAGAATTT",
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        "ENST00000286479.3:c.513_525del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Asn172LeufsTer?",
        "hgvsWellDefined": "ENSP00000286479.3:p.[Asn172_Phe175delinsLeuIle;Asn177Ile;His179_Lys184delinsCysGlnArgArgAsnThr;His186_Ile189delinsLysTyrThr;Phe192_Thr193delinsArgLeuAsn;Pro196_Thr198delinsGlnLeuLys;Glu200_Glu203delinsLeu;Met205Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253369"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "AAACAAAGAATTT",
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      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000520116.1:c.123_135del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428416.1:p.Asn42LeufsTer?",
        "hgvsWellDefined": "ENSP00000428416.1:p.[Asn42_Phe45delinsLeuIle;Asn47Ile;His49_Lys54delinsCysGlnArgArgAsnThr;His56_Ile59delinsLysTyrThr;Phe62_Thr63delinsArgLeuAsn;Pro66_Thr68delinsGlnLeuLys;Glu70_Glu73delinsLeu;Met75Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347221"
    },
    {
      "coordinates": [
        {
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          "end": 632,
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      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.2:c.513_525del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Asn172LeufsTer?",
        "hgvsWellDefined": "NP_000006.2:p.[Asn172_Phe175delinsLeuIle;Asn177Ile;His179_Lys184delinsCysGlnArgArgAsnThr;His186_Ile189delinsLysTyrThr;Phe192_Thr193delinsArgLeuAsn;Pro196_Thr198delinsGlnLeuLys;Glu200_Glu203delinsLeu;Met205Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 626,
          "referenceAllele": "AAACAAAGAATTT",
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      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_011544358.1:c.513_525del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542660.1:p.Asn172LeufsTer?",
        "hgvsWellDefined": "XP_011542660.1:p.[Asn172_Phe175delinsLeuIle;Asn177Ile;His179_Lys184delinsCysGlnArgArgAsnThr;His186_Ile189delinsLysTyrThr;Phe192_Thr193delinsArgLeuAsn;Pro196_Thr198delinsGlnLeuLys;Glu200_Glu203delinsLeu;Met205Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 983,
          "referenceAllele": "AAACAAAGAATTT",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_017012938.1:c.513_525del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868427.1:p.Asn172LeufsTer?",
        "hgvsWellDefined": "XP_016868427.1:p.[Asn172_Phe175delinsLeuIle;Asn177Ile;His179_Lys184delinsCysGlnArgArgAsnThr;His186_Ile189delinsLysTyrThr;Phe192_Thr193delinsArgLeuAsn;Pro196_Thr198delinsGlnLeuLys;Glu200_Glu203delinsLeu;Met205Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 595,
          "referenceAllele": "AAACAAAGAATTT",
          "start": 582
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      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.3:c.513_525del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Asn172LeufsTer?",
        "hgvsWellDefined": "NP_000006.2:p.[Asn172_Phe175delinsLeuIle;Asn177Ile;His179_Lys184delinsCysGlnArgArgAsnThr;His186_Ile189delinsLysTyrThr;Phe192_Thr193delinsArgLeuAsn;Pro196_Thr198delinsGlnLeuLys;Glu200_Glu203delinsLeu;Met205Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662282",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.513_525del"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.513_525del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Asn172LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Asn172LeufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}