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        "hgvsWellDefined": "ENSP00000435088.1:p.Gln198_Arg287delinsValSerGlnGluGlyLeuGlyProValLeuGlnProGlnProLysSerTyrPheLysSerIleSerValThrLysIleThrLysProAspGlyIleValGluGluArgArgThrValValAspSerGluGlyArgThrGluThrThrValThrArgHisGluAlaAspSerSerProArgGlyAspProGluSerProArgProProAlaLeuAspAspAlaPheSerIleLeuAspLeuPheLeuGlyArgTrpPheArgSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157,
          "referenceAllele": "C",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000492550.1:n.157C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000531435.5:n.838C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "C",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000532105.1:c.184C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433951.1:p.Gln62Ter",
        "hgvsWellDefined": "ENSP00000433951.1:p.Gln62_Arg151delinsValSerGlnGluGlyLeuGlyProValLeuGlnProGlnProLysSerTyrPheLysSerIleSerValThrLysIleThrLysProAspGlyIleValGluGluArgArgThrValValAspSerGluGlyArgThrGluThrThrValThrArgHisGluAlaAspSerSerProArgGlyAspProGluSerProArgProProAlaLeuAspAspAlaPheSerIleLeuAspLeuPheLeuGlyArgTrpPheArgSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825330862",
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "referenceAllele": "C",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "NM_001018837.1:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018238.1:p.Gln142Ter",
        "hgvsWellDefined": "NP_001018238.1:p.Gln142_Arg231delinsValSerGlnGluGlyLeuGlyProValLeuGlnProGlnProLysSerTyrPheLysSerIleSerValThrLysIleThrLysProAspGlyIleValGluGluArgArgThrValValAspSerGluGlyArgThrGluThrThrValThrArgHisGluAlaAspSerSerProArgGlyAspProGluSerProArgProProAlaLeuAspAspAlaPheSerIleLeuAspLeuPheLeuGlyArgTrpPheArgSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280976",
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "NM_006118.3:c.568C>T",
        "LRG_64t1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006109.2:p.Gln190Ter",
        "hgvsWellDefined": "NP_006109.2:p.Gln190_Arg279delinsValSerGlnGluGlyLeuGlyProValLeuGlnProGlnProLysSerTyrPheLysSerIleSerValThrLysIleThrLysProAspGlyIleValGluGluArgArgThrValValAspSerGluGlyArgThrGluThrThrValThrArgHisGluAlaAspSerSerProArgGlyAspProGluSerProArgProProAlaLeuAspAspAlaPheSerIleLeuAspLeuPheLeuGlyArgTrpPheArgSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825330862",
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "NM_001018837.2:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018238.1:p.Gln142Ter",
        "hgvsWellDefined": "NP_001018238.1:p.Gln142_Arg231delinsValSerGlnGluGlyLeuGlyProValLeuGlnProGlnProLysSerTyrPheLysSerIleSerValThrLysIleThrLysProAspGlyIleValGluGluArgArgThrValValAspSerGluGlyArgThrGluThrThrValThrArgHisGluAlaAspSerSerProArgGlyAspProGluSerProArgProProAlaLeuAspAspAlaPheSerIleLeuAspLeuPheLeuGlyArgTrpPheArgSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280976",
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "NM_006118.4:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006109.2:p.Gln190Ter",
        "hgvsWellDefined": "NP_006109.2:p.Gln190_Arg279delinsValSerGlnGluGlyLeuGlyProValLeuGlnProGlnProLysSerTyrPheLysSerIleSerValThrLysIleThrLysProAspGlyIleValGluGluArgArgThrValValAspSerGluGlyArgThrGluThrThrValThrArgHisGluAlaAspSerSerProArgGlyAspProGluSerProArgProProAlaLeuAspAspAlaPheSerIleLeuAspLeuPheLeuGlyArgTrpPheArgSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696617",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328703.12:c.568C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006118.4:c.568C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329002.7:p.Gln190Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006109.2:p.Gln190Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}