{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351115813",
  "communityStandardTitle": [
    "NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=535281[alleleid]",
        "alleleId": 535281,
        "preferredName": "NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545017",
        "RCV": [
          "RCV000721952"
        ],
        "variationId": 545017
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.223066853G>C?assembly=hg19",
        "id": "chr2:g.223066853G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.222202134G>C?assembly=hg38",
        "id": "chr2:g.222202134G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147111779",
        "rs": 147111779
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 222202134,
          "referenceAllele": "G",
          "start": 222202133
        }
      ],
      "hgvs": [
        "NC_000002.12:g.222202134G>C",
        "CM000664.2:g.222202134G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 223066853,
          "referenceAllele": "G",
          "start": 223066852
        }
      ],
      "hgvs": [
        "NC_000002.11:g.223066853G>C",
        "CM000664.1:g.223066853G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 222775097,
          "referenceAllele": "G",
          "start": 222775096
        }
      ],
      "hgvs": [
        "NC_000002.10:g.222775097G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101848,
          "referenceAllele": "C",
          "start": 101847
        }
      ],
      "hgvs": [
        "NG_011632.1:g.101848C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001867"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1217,
          "endIntronDirection": "-",
          "endIntronOffset": 691,
          "referenceAllele": "C",
          "start": 1217,
          "startIntronDirection": "-",
          "startIntronOffset": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000336840.11:c.1174-692C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338767.5:n.1174-692C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1217,
          "endIntronDirection": "-",
          "endIntronOffset": 691,
          "referenceAllele": "C",
          "start": 1217,
          "startIntronDirection": "-",
          "startIntronOffset": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000344493.9:c.1174-692C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342092.4:n.1174-692C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000350526.9:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343052.4:p.Tyr410Ter",
        "hgvsWellDefined": "ENSP00000343052.4:p.Tyr410_Phe479delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000392070.7:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375922.3:p.Tyr410Ter",
        "hgvsWellDefined": "ENSP00000375922.3:p.Tyr410_Ala484delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392070.7:c.1230C>G"
          },
          "RefSeq": {
            "hgvs": "NM_181458.4:c.1230C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375922.3:p.Tyr410Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852123.1:p.Tyr410Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000464706.6:n.668C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000644699.1:n.556C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000646154.1:n.1044C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "endIntronDirection": "-",
          "endIntronOffset": 691,
          "referenceAllele": "C",
          "start": 1554,
          "startIntronDirection": "-",
          "startIntronOffset": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000336840.10:c.1174-692C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338767.5:n.1174-692C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "endIntronDirection": "-",
          "endIntronOffset": 691,
          "referenceAllele": "C",
          "start": 1554,
          "startIntronDirection": "-",
          "startIntronOffset": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000344493.8:c.1174-692C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342092.4:n.1174-692C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000350526.8:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343052.4:p.Tyr410Ter",
        "hgvsWellDefined": "ENSP00000343052.4:p.Tyr410_Phe479delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1596,
          "referenceAllele": "C",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000392069.6:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375921.2:p.Tyr410Ter",
        "hgvsWellDefined": "ENSP00000375921.2:p.Tyr410_Gln505delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1611,
          "referenceAllele": "C",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000392070.6:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375922.2:p.Tyr410Ter",
        "hgvsWellDefined": "ENSP00000375922.2:p.Tyr410_Ala484delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1507,
          "referenceAllele": "C",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000409551.7:c.1227C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386750.3:p.Tyr409Ter",
        "hgvsWellDefined": "ENSP00000386750.3:p.Tyr409_Ala483delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "referenceAllele": "C",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000464706.5:n.654C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825604064",
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_001127366.2:c.1227C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120838.1:p.Tyr409Ter",
        "hgvsWellDefined": "NP_001120838.1:p.Tyr409_Ala483delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830388860",
      "coordinates": [
        {
          "allele": "G",
          "end": 1611,
          "referenceAllele": "C",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181457.3:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852122.1:p.Tyr410Ter",
        "hgvsWellDefined": "NP_852122.1:p.Tyr410_Phe479delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389235",
      "coordinates": [
        {
          "allele": "G",
          "end": 1611,
          "referenceAllele": "C",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181458.3:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852123.1:p.Tyr410Ter",
        "hgvsWellDefined": "NP_852123.1:p.Tyr410_Ala484delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891866509",
      "coordinates": [
        {
          "allele": "G",
          "end": 1611,
          "referenceAllele": "C",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181459.3:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852124.1:p.Tyr410Ter",
        "hgvsWellDefined": "NP_852124.1:p.Tyr410_Gln505delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043715"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "endIntronDirection": "-",
          "endIntronOffset": 691,
          "referenceAllele": "C",
          "start": 1554,
          "startIntronDirection": "-",
          "startIntronOffset": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.3:c.1174-692C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:n.1174-692C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "endIntronDirection": "-",
          "endIntronOffset": 691,
          "referenceAllele": "C",
          "start": 1554,
          "startIntronDirection": "-",
          "startIntronOffset": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.3:c.1174-692C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:n.1174-692C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1773,
          "referenceAllele": "C",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511278.1:c.1374C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509580.1:p.Tyr458Ter",
        "hgvsWellDefined": "XP_011509580.1:p.Tyr458_Gln553delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511279.1:c.666C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509581.1:p.Tyr222Ter",
        "hgvsWellDefined": "XP_011509581.1:p.Tyr222_Gln317delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825604064",
      "coordinates": [
        {
          "allele": "G",
          "end": 1610,
          "referenceAllele": "C",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_001127366.3:c.1227C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120838.1:p.Tyr409Ter",
        "hgvsWellDefined": "NP_001120838.1:p.Tyr409_Ala483delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676873"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830388860",
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181457.4:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852122.1:p.Tyr410Ter",
        "hgvsWellDefined": "NP_852122.1:p.Tyr410_Phe479delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830389235",
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181458.4:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852123.1:p.Tyr410Ter",
        "hgvsWellDefined": "NP_852123.1:p.Tyr410_Ala484delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700947",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392070.7:c.1230C>G"
          },
          "RefSeq": {
            "hgvs": "NM_181458.4:c.1230C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375922.3:p.Tyr410Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852123.1:p.Tyr410Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA891866509",
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181459.4:c.1230C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852124.1:p.Tyr410Ter",
        "hgvsWellDefined": "NP_852124.1:p.Tyr410_Gln505delinsAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1556,
          "endIntronDirection": "-",
          "endIntronOffset": 691,
          "referenceAllele": "C",
          "start": 1556,
          "startIntronDirection": "-",
          "startIntronOffset": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.4:c.1174-692C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:n.1174-692C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1556,
          "endIntronDirection": "-",
          "endIntronOffset": 691,
          "referenceAllele": "C",
          "start": 1556,
          "startIntronDirection": "-",
          "startIntronOffset": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.4:c.1174-692C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:n.1174-692C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700950"
    }
  ],
  "type": "nucleotide"
}