{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
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  "communityStandardTitle": [
    "NM_004646.4(NPHS1):c.1745del (p.Lys582ArgfsTer?)"
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        "RCV": [
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          "RCV001387653"
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      }
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      }
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    ]
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      "coordinates": [
        {
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          "end": 35845682,
          "referenceAllele": "T",
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        }
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
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        {
          "allele": "",
          "end": 41028424,
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          "start": 41028423
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    },
    {
      "coordinates": [
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          "end": 28607,
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      "referenceSequence": "http://reg.genome.network/refseq/RS002808"
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  ],
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          "allele": "",
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      "geneNCBI_id": 4868,
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      "referenceSequence": "http://reg.genome.network/refseq/RS752149",
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        "maneStatus": "MANE Select",
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        "hgvs": "ENSP00000343634.5:p.Lys582ArgfsTer?",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262984"
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    {
      "coordinates": [
        {
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        "hgvs": "ENSP00000368190.4:p.Lys582ArgfsTer?",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272252"
    },
    {
      "coordinates": [
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          "allele": "",
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          "referenceAllele": "A",
          "start": 1900
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      "hgvs": [
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        "LRG_693t1:c.1745del"
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      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Lys582ArgfsTer?",
        "hgvsWellDefined": "NP_004637.1:p.[Lys582_Glu583delinsArgLys;Glu585del;Leu587_Val590delinsGlyTrpArg;Ala592Trp;Arg595_Ala597delinsHisProGlyGlu;Phe599delinsHisSer;Gly601_Gln611delinsAlaProProProProGlyAlaSerPheCysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029801"
    },
    {
      "coordinates": [
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          "allele": "",
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      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.4:c.1745del"
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      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Lys582ArgfsTer?",
        "hgvsWellDefined": "NP_004637.1:p.[Lys582_Glu583delinsArgLys;Glu585del;Leu587_Val590delinsGlyTrpArg;Ala592Trp;Arg595_Ala597delinsHisProGlyGlu;Phe599delinsHisSer;Gly601_Gln611delinsAlaProProProProGlyAlaSerPheCysLys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.1745del"
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          "RefSeq": {
            "hgvs": "NM_004646.4:c.1745del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Lys582ArgfsTer?"
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          "RefSeq": {
            "hgvs": "NP_004637.1:p.Lys582ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}