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  "@id": "http://reg.genome.network/allele/CA378257798",
  "communityStandardTitle": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/562404",
        "RCV": [
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      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000554172.2:c.232G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452489.2:p.Glu78Ter",
        "hgvsWellDefined": "ENSP00000452489.2:p.Glu78Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "endIntronDirection": "+",
          "endIntronOffset": 4398,
          "referenceAllele": "G",
          "start": 125,
          "startIntronDirection": "+",
          "startIntronOffset": 4397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000554363.2:n.125+4398G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.3:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.2:p.Glu74Ter",
        "hgvsWellDefined": "NP_000269.2:p.Glu74_His393delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgSerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826896250",
      "coordinates": [
        {
          "allele": "T",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.1:c.313G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Glu105Ter",
        "hgvsWellDefined": "NP_001291498.1:p.Glu105_His425delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.3:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.2:p.Glu74Ter",
        "hgvsWellDefined": "NP_003978.2:p.Glu74_His416delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgSerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479730",
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.3:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Glu74Ter",
        "hgvsWellDefined": "NP_003979.2:p.Glu74_Tyr396delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.3:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.2:p.Glu74Ter",
        "hgvsWellDefined": "NP_003980.2:p.Glu74_Val408delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.3:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.2:p.Glu74Ter",
        "hgvsWellDefined": "NP_003981.2:p.Glu74_Val431delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138350",
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.4:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Glu74Ter",
        "hgvsWellDefined": "NP_000269.3:p.Glu74_His394delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479408",
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.4:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Glu74Ter",
        "hgvsWellDefined": "NP_003978.3:p.Glu74_His417delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479730",
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.4:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Glu74Ter",
        "hgvsWellDefined": "NP_003979.2:p.Glu74_Tyr396delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480148",
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.4:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Glu74Ter",
        "hgvsWellDefined": "NP_003980.3:p.Glu74_Val409delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865360",
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.4:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Glu74Ter",
        "hgvsWellDefined": "NP_003981.3:p.Glu74_Val432delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138350",
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.5:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Glu74Ter",
        "hgvsWellDefined": "NP_000269.3:p.Glu74_His394delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674773",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355243.8:c.220G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000278.5:c.220G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347385.3:p.Glu74Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000269.3:p.Glu74Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826896250",
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.2:c.313G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Glu105Ter",
        "hgvsWellDefined": "NP_001291498.1:p.Glu105_His425delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479408",
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.5:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Glu74Ter",
        "hgvsWellDefined": "NP_003978.3:p.Glu74_His417delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479730",
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Glu74Ter",
        "hgvsWellDefined": "NP_003979.2:p.Glu74_Tyr396delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480148",
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Glu74Ter",
        "hgvsWellDefined": "NP_003980.3:p.Glu74_Val409delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865360",
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.5:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Glu74Ter",
        "hgvsWellDefined": "NP_003981.3:p.Glu74_Val432delinsThrGlySerIleLysProGlyValIleGlyGlySerLysProLysValAlaThrProLysValValAspLysIleAlaGluTyrLysArgGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}