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      "referenceSequence": "http://reg.genome.network/refseq/RS525159"
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    {
      "@id": "http://reg.genome.network/allele/PA2829480334",
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        "hgvs": "NP_003980.3:p.Tyr318Ter",
        "hgvsWellDefined": "NP_003980.3:p.Tyr318_Val409delinsProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865376",
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.4:c.1023C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Tyr341Ter",
        "hgvsWellDefined": "NP_003981.3:p.Tyr341_Val432delinsProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138513",
      "coordinates": [
        {
          "allele": "A",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.5:c.954C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Tyr318Ter",
        "hgvsWellDefined": "NP_000269.3:p.Tyr318_His394delinsProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674773",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355243.8:c.954C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000278.5:c.954C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347385.3:p.Tyr318Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000269.3:p.Tyr318Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916019766",
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.2:c.1047C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Tyr349Ter",
        "hgvsWellDefined": "NP_001291498.1:p.Tyr349_His425delinsProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479629",
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.5:c.1023C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Tyr341Ter",
        "hgvsWellDefined": "NP_003978.3:p.Tyr341_His417delinsProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479967",
      "coordinates": [
        {
          "allele": "A",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.954C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Tyr318Ter",
        "hgvsWellDefined": "NP_003979.2:p.Tyr318_Tyr396delinsProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480334",
      "coordinates": [
        {
          "allele": "A",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.954C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Tyr318Ter",
        "hgvsWellDefined": "NP_003980.3:p.Tyr318_Val409delinsProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865376",
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.5:c.1023C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Tyr341Ter",
        "hgvsWellDefined": "NP_003981.3:p.Tyr341_Val432delinsProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}