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      "hgvs": [
        "XR_002956828.1:n.583C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956829.1:n.583C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956830.1:n.354C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 1938,
          "referenceAllele": "C",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956831.1:n.139-1939C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956832.1:n.354C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253541",
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.2:c.295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Arg99Ter",
        "hgvsWellDefined": "NP_036335.1:p.Arg99_Leu328delinsValGlyTyrThrProAspValLeuThrAspThrThrAlaGluLeuAlaValSerLeuLeuLeuThrThrCysArgArgLeuProGluAlaIleGluGluValLysAsnGlyGlyTrpThrSerTrpLysProLeuTrpLeuCysGlyTyrGlyLeuThrGlnSerThrValGlyIleIleGlyLeuGlyArgIleGlyGlnAlaIleAlaArgArgLeuLysProPheGlyValGlnArgPheLeuTyrThrGlyArgGlnProArgProGluGluAlaAlaGluPheGlnAlaGluPheValSerThrProGluLeuAlaAlaGlnSerAspPheIleValValAlaCysSerLeuThrProAlaThrGluGlyLeuCysAsnLysAspPhePheGlnLysMetLysGluThrAlaValPheIleAsnIleSerArgGlyAspValValAsnGlnAspAspLeuTyrGlnAlaLeuAlaSerGlyLysIleAlaAlaAlaGlyLeuAspValThrSerProGluProLeuProThrAsnHisProLeuLeuThrLeuLysAsnCysValIleLeuProHisIleGlySerAlaThrHisArgThrArgAsnThrMetSerLeuLeuAlaAlaAsnAsnLeuLeuAlaGlyLeuArgGlyGluProMetProSerGluLeuLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.295C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.295C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Arg99Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Arg99Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}