{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1330546629",
  "communityStandardTitle": [
    "NM_181458.4(PAX3):c.86-92A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6754024",
        "rs": 6754024
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 222297305,
          "referenceAllele": "T",
          "start": 222297304
        }
      ],
      "hgvs": [
        "NC_000002.12:g.222297305T=",
        "CM000664.2:g.222297305T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 223162024,
          "referenceAllele": "T",
          "start": 223162023
        }
      ],
      "hgvs": [
        "NC_000002.11:g.223162024T=",
        "CM000664.1:g.223162024T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 222870268,
          "referenceAllele": "T",
          "start": 222870267
        }
      ],
      "hgvs": [
        "NC_000002.10:g.222870268T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6677,
          "referenceAllele": "A",
          "start": 6676
        }
      ],
      "hgvs": [
        "NG_011632.1:g.6677A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4159,
          "referenceAllele": "T",
          "start": 4158
        }
      ],
      "hgvs": [
        "NG_021186.1:g.4159T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003465"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000258387.6:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258387.5:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 129,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000336840.11:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338767.5:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 129,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000344493.9:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342092.4:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000350526.9:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343052.4:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000392070.7:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375922.3:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392070.7:c.86-92A="
          },
          "RefSeq": {
            "hgvs": "NM_181458.4:c.86-92A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375922.3:n.86-92A="
          },
          "RefSeq": {
            "hgvs": "NP_852123.1:n.86-92A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000647467.1:n.467-92A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000258387.5:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258387.5:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000336840.10:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338767.5:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000344493.8:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342092.4:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000350526.8:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343052.4:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 451,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000392069.6:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375921.2:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000392070.6:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375922.2:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 365,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 365,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000409551.7:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386750.3:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 216,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "ENST00000409828.7:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386817.3:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_000438.5:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000429.2:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_001127366.2:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120838.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_013942.4:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_039230.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181457.3:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_852122.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181458.3:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_852123.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181459.3:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_852124.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043715"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.3:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.3:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 628,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511278.1:c.230-92A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509580.1:n.230-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 628,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511280.1:c.230-92A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509582.1:n.230-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 628,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "XM_011511281.1:c.230-92A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509583.1:n.230-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_000438.6:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000429.2:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_001127366.3:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120838.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_013942.5:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_039230.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181457.4:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_852122.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181458.4:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_852123.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700947",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392070.7:c.86-92A="
          },
          "RefSeq": {
            "hgvs": "NM_181458.4:c.86-92A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375922.3:n.86-92A="
          },
          "RefSeq": {
            "hgvs": "NP_852123.1:n.86-92A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181459.4:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_852124.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.4:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 91,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.4:c.86-92A="
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:n.86-92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700950"
    }
  ],
  "type": "nucleotide"
}