{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA378257796",
  "communityStandardTitle": [
    "NM_000278.5(PAX2):c.219C>G (p.Tyr73Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=553577[alleleid]",
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        "preferredName": "NM_000278.5(PAX2):c.219C>G (p.Tyr73Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/562393",
        "RCV": [
          "RCV000681858",
          "RCV004527736"
        ],
        "variationId": 562393
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102510457C>G?assembly=hg19",
        "id": "chr10:g.102510457C>G"
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    ],
    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr10:g.100750700C>G?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/139724326",
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    },
    {
      "chromosome": "10",
      "coordinates": [
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    },
    {
      "chromosome": "10",
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS001165"
    },
    {
      "coordinates": [
        {
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          "end": 19992,
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          "start": 19991
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    }
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS913310"
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      "referenceSequence": "http://reg.genome.network/refseq/RS748645",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755171"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS779007"
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      "referenceSequence": "http://reg.genome.network/refseq/RS263376"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265657"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS267981"
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      },
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    },
    {
      "coordinates": [
        {
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          "endIntronDirection": "+",
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      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000554172.2:c.231C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452489.2:p.Tyr77Ter",
        "hgvsWellDefined": "ENSP00000452489.2:p.Tyr77Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370429"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125,
          "endIntronDirection": "+",
          "endIntronOffset": 4397,
          "referenceAllele": "C",
          "start": 125,
          "startIntronDirection": "+",
          "startIntronOffset": 4396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000554363.2:n.125+4397C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.3:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.2:p.Tyr73Ter",
        "hgvsWellDefined": "NP_000269.2:p.Tyr73_His393delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgSerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826896246",
      "coordinates": [
        {
          "allele": "G",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.1:c.312C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Tyr104Ter",
        "hgvsWellDefined": "NP_001291498.1:p.Tyr104_His425delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.3:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.2:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003978.2:p.Tyr73_His416delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgSerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479728",
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.3:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003979.2:p.Tyr73_Tyr396delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.3:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.2:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003980.2:p.Tyr73_Val408delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029190"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.3:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.2:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003981.2:p.Tyr73_Val431delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138344",
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.4:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Tyr73Ter",
        "hgvsWellDefined": "NP_000269.3:p.Tyr73_His394delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479402",
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.4:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003978.3:p.Tyr73_His417delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479728",
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.4:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003979.2:p.Tyr73_Tyr396delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480142",
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.4:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003980.3:p.Tyr73_Val409delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865358",
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.4:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003981.3:p.Tyr73_Val432delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138344",
      "coordinates": [
        {
          "allele": "G",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.5:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Tyr73Ter",
        "hgvsWellDefined": "NP_000269.3:p.Tyr73_His394delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674773",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355243.8:c.219C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000278.5:c.219C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347385.3:p.Tyr73Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000269.3:p.Tyr73Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826896246",
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "C",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.2:c.312C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Tyr104Ter",
        "hgvsWellDefined": "NP_001291498.1:p.Tyr104_His425delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479402",
      "coordinates": [
        {
          "allele": "G",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.5:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003978.3:p.Tyr73_His417delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479728",
      "coordinates": [
        {
          "allele": "G",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003979.2:p.Tyr73_Tyr396delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480142",
      "coordinates": [
        {
          "allele": "G",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003980.3:p.Tyr73_Val409delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865358",
      "coordinates": [
        {
          "allele": "G",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.5:c.219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Tyr73Ter",
        "hgvsWellDefined": "NP_003981.3:p.Tyr73_Val432delinsGluThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}