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        "hgvsWellDefined": "NP_003979.2:p.Tyr302_Tyr396delinsProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480319",
      "coordinates": [
        {
          "allele": "A",
          "end": 1456,
          "referenceAllele": "C",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.4:c.906C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Tyr302Ter",
        "hgvsWellDefined": "NP_003980.3:p.Tyr302_Val409delinsProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480587",
      "coordinates": [
        {
          "allele": "A",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.4:c.975C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Tyr325Ter",
        "hgvsWellDefined": "NP_003981.3:p.Tyr325_Val432delinsProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138500",
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.5:c.906C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Tyr302Ter",
        "hgvsWellDefined": "NP_000269.3:p.Tyr302_His394delinsProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674773",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355243.8:c.906C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000278.5:c.906C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347385.3:p.Tyr302Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000269.3:p.Tyr302Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499247358",
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.2:c.999C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Tyr333Ter",
        "hgvsWellDefined": "NP_001291498.1:p.Tyr333_His425delinsProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479611",
      "coordinates": [
        {
          "allele": "A",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.5:c.975C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Tyr325Ter",
        "hgvsWellDefined": "NP_003978.3:p.Tyr325_His417delinsProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479949",
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.906C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Tyr302Ter",
        "hgvsWellDefined": "NP_003979.2:p.Tyr302_Tyr396delinsProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480319",
      "coordinates": [
        {
          "allele": "A",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.906C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Tyr302Ter",
        "hgvsWellDefined": "NP_003980.3:p.Tyr302_Val409delinsProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480587",
      "coordinates": [
        {
          "allele": "A",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.5:c.975C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Tyr325Ter",
        "hgvsWellDefined": "NP_003981.3:p.Tyr325_Val432delinsProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}