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        "hgvsWellDefined": "NP_852122.1:p.Ser426_Phe479delinsAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389245",
      "coordinates": [
        {
          "allele": "A",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181458.4:c.1277C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852123.1:p.Ser426Ter",
        "hgvsWellDefined": "NP_852123.1:p.Ser426_Ala484delinsAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700947",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392070.7:c.1277C>A"
          },
          "RefSeq": {
            "hgvs": "NM_181458.4:c.1277C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375922.3:p.Ser426Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852123.1:p.Ser426Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077355",
      "coordinates": [
        {
          "allele": "A",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181459.4:c.1277C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852124.1:p.Ser426Ter",
        "hgvsWellDefined": "NP_852124.1:p.Ser426_Gln505delinsAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "endIntronDirection": "-",
          "endIntronOffset": 644,
          "referenceAllele": "C",
          "start": 1556,
          "startIntronDirection": "-",
          "startIntronOffset": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.4:c.1174-645C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:n.1174-645C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "endIntronDirection": "-",
          "endIntronOffset": 644,
          "referenceAllele": "C",
          "start": 1556,
          "startIntronDirection": "-",
          "startIntronOffset": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.4:c.1174-645C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:n.1174-645C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700950"
    }
  ],
  "type": "nucleotide"
}