{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1330511488",
  "communityStandardTitle": [
    "NM_181458.4(PAX3):c.812G= (p.Arg271=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774528745",
        "rs": 774528745
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 222221368,
          "referenceAllele": "C",
          "start": 222221367
        }
      ],
      "hgvs": [
        "NC_000002.12:g.222221368C=",
        "CM000664.2:g.222221368C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 223086087,
          "referenceAllele": "C",
          "start": 223086086
        }
      ],
      "hgvs": [
        "NC_000002.11:g.223086087C=",
        "CM000664.1:g.223086087C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 222794331,
          "referenceAllele": "C",
          "start": 222794330
        }
      ],
      "hgvs": [
        "NC_000002.10:g.222794331C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82614,
          "referenceAllele": "G",
          "start": 82613
        }
      ],
      "hgvs": [
        "NG_011632.1:g.82614G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001867"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000336840.11:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338767.5:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000344493.9:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342092.4:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000350526.9:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343052.4:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000392070.7:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375922.3:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392070.7:c.812G="
          },
          "RefSeq": {
            "hgvs": "NM_181458.4:c.812G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375922.3:p.Arg271="
          },
          "RefSeq": {
            "hgvs": "NP_852123.1:p.Arg271="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000464706.6:n.250G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000644699.1:n.138G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "referenceAllele": "G",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000644937.1:n.84G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000646154.1:n.626G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000336840.10:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338767.5:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000344493.8:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342092.4:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000350526.8:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343052.4:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "referenceAllele": "G",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000392069.6:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375921.2:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000392070.6:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375922.2:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000409551.7:c.809G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386750.3:p.Arg270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "referenceAllele": "G",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000464706.5:n.236G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43,
          "referenceAllele": "G",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000555548.1:n.43G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1190,
          "referenceAllele": "G",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_001127366.2:c.809G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120838.1:p.Arg270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181457.3:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852122.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067049718",
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181458.3:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852123.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181459.3:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852124.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043715"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.3:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.3:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1355,
          "referenceAllele": "G",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511278.1:c.956G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509580.1:p.Arg319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511279.1:c.248G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509581.1:p.Arg83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_001127366.3:c.809G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120838.1:p.Arg270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181457.4:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852122.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700946"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067049718",
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181458.4:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852123.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700947",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392070.7:c.812G="
          },
          "RefSeq": {
            "hgvs": "NM_181458.4:c.812G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375922.3:p.Arg271="
          },
          "RefSeq": {
            "hgvs": "NP_852123.1:p.Arg271="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181459.4:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852124.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.4:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.4:c.812G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:p.Arg271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700950"
    }
  ],
  "type": "nucleotide"
}