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  "@id": "http://reg.genome.network/allele/CA10581222",
  "communityStandardTitle": [
    "NM_181458.4(PAX3):c.415A>T (p.Lys139Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235094",
        "RCV": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000375922.2:p.Lys139_Ala484delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "A",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000409551.7:c.412A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386750.3:p.Lys138Ter",
        "hgvsWellDefined": "ENSP00000386750.3:p.Lys138_Ala483delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000409828.7:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386817.3:p.Lys139Ter",
        "hgvsWellDefined": "ENSP00000386817.3:p.Lys139_Ser215delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysArgTrpArgLeuGlyArgArgThrCysTrpValThrTrpArgAlaSerAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281884"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825170847",
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_000438.5:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000429.2:p.Lys139Ter",
        "hgvsWellDefined": "NP_000429.2:p.Lys139_Ser215delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysArgTrpArgLeuGlyArgArgThrCysTrpValThrTrpArgAlaSerAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825603888",
      "coordinates": [
        {
          "allele": "T",
          "end": 793,
          "referenceAllele": "A",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_001127366.2:c.412A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120838.1:p.Lys138Ter",
        "hgvsWellDefined": "NP_001120838.1:p.Lys138_Ala483delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829745921",
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_013942.4:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_039230.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_039230.1:p.Lys139_His206delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysAlaLeuValSerGlyValSerSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032828"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830388707",
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181457.3:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852122.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_852122.1:p.Lys139_Phe479delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389004",
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181458.3:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852123.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_852123.1:p.Lys139_Ala484delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645378987",
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181459.3:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852124.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_852124.1:p.Lys139_Gln505delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043715"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389693",
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.3:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_852125.1:p.Lys139_Phe407delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077405",
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.3:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_852126.1:p.Lys139_Lys403delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "A",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511278.1:c.559A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509580.1:p.Lys187Ter",
        "hgvsWellDefined": "XP_011509580.1:p.Lys187_Gln553delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "A",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511280.1:c.559A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509582.1:p.Lys187Ter",
        "hgvsWellDefined": "XP_011509582.1:p.Lys187_Val263delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGluProIleAlaTrpArgGlyArgTrpSerHisGluGlnIleThrThrIleSerCysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "A",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511281.1:c.559A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509583.1:p.Lys187Ter",
        "hgvsWellDefined": "XP_011509583.1:p.Lys187_His254delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysAlaLeuValSerGlyValSerSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825170847",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_000438.6:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000429.2:p.Lys139Ter",
        "hgvsWellDefined": "NP_000429.2:p.Lys139_Ser215delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysArgTrpArgLeuGlyArgArgThrCysTrpValThrTrpArgAlaSerAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674846"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825603888",
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "referenceAllele": "A",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_001127366.3:c.412A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120838.1:p.Lys138Ter",
        "hgvsWellDefined": "NP_001120838.1:p.Lys138_Ala483delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676873"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829745921",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_013942.5:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_039230.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_039230.1:p.Lys139_His206delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgGlyLysAlaLeuValSerGlyValSerSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830388707",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181457.4:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852122.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_852122.1:p.Lys139_Phe479delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389004",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181458.4:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852123.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_852123.1:p.Lys139_Ala484delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700947",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392070.7:c.415A>T"
          },
          "RefSeq": {
            "hgvs": "NM_181458.4:c.415A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375922.3:p.Lys139Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852123.1:p.Lys139Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645378987",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181459.4:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852124.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_852124.1:p.Lys139_Gln505delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389693",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.4:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_852125.1:p.Lys139_Phe407delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077405",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.4:c.415A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:p.Lys139Ter",
        "hgvsWellDefined": "NP_852126.1:p.Lys139_Lys403delinsAspAlaValCysAspArgAsnThrValProSerValSerSerIleSerArgIleLeuArgSerLysPheGlyLysGlyGluGluGluGluAlaAspLeuGluArgLysGluAlaGluGluSerGluLysLysAlaLysHisSerIleAspGlyIleLeuSerGluArgAlaSerAlaProGlnSerAspGluGlySerAspIleAspSerGluProAspLeuProLeuLysArgLysGlnArgArgSerArgThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700950"
    }
  ],
  "type": "nucleotide"
}