{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830389718",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 180,
          "referenceAllele": "S",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NP_852125.1:p.Ser180Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2135703",
          "hgvs": "NM_181460.4:c.540C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351112668",
          "hgvs": "NM_181460.4:c.540C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351112677",
          "hgvs": "NM_181460.4:c.538A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184228"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=496224[alleleid]",
        "alleleId": 496224,
        "preferredName": "NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/504788",
        "RCV": [
          "RCV000601148",
          "RCV000765615",
          "RCV003718260",
          "RCV004024887"
        ],
        "variationId": 504788
      }
    ]
  },
  "type": "amino-acid"
}