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      "referenceSequence": "http://reg.genome.network/refseq/RS043715"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389813",
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.3:c.1021C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:p.Gln341Ter",
        "hgvsWellDefined": "NP_852125.1:p.Gln341_Phe407delinsSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077452",
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.3:c.1021C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:p.Gln341Ter",
        "hgvsWellDefined": "NP_852126.1:p.Gln341_Lys403delinsSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511278.1:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509580.1:p.Gln389Ter",
        "hgvsWellDefined": "XP_011509580.1:p.Gln389_Gln553delinsSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511279.1:c.457C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509581.1:p.Gln153Ter",
        "hgvsWellDefined": "XP_011509581.1:p.Gln153_Gln317delinsSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "endIntronDirection": "-",
          "endIntronOffset": 103,
          "referenceAllele": "G",
          "start": 239,
          "startIntronDirection": "-",
          "startIntronOffset": 104
        }
      ],
      "hgvs": [
        "XR_001739903.1:n.240-104G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825604018",
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_001127366.3:c.1018C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120838.1:p.Gln340Ter",
        "hgvsWellDefined": "NP_001120838.1:p.Gln340_Ala483delinsSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676873"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829071",
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181457.4:c.1021C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852122.1:p.Gln341Ter",
        "hgvsWellDefined": "NP_852122.1:p.Gln341_Phe479delinsSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389178",
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181458.4:c.1021C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852123.1:p.Gln341Ter",
        "hgvsWellDefined": "NP_852123.1:p.Gln341_Ala484delinsSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700947",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392070.7:c.1021C>T"
          },
          "RefSeq": {
            "hgvs": "NM_181458.4:c.1021C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375922.3:p.Gln341Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852123.1:p.Gln341Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389540",
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181459.4:c.1021C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852124.1:p.Gln341Ter",
        "hgvsWellDefined": "NP_852124.1:p.Gln341_Gln505delinsSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389813",
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.4:c.1021C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:p.Gln341Ter",
        "hgvsWellDefined": "NP_852125.1:p.Gln341_Phe407delinsSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077452",
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.4:c.1021C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:p.Gln341Ter",
        "hgvsWellDefined": "NP_852126.1:p.Gln341_Lys403delinsSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700950"
    }
  ],
  "type": "nucleotide"
}