{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916077455",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 373,
          "referenceAllele": "P",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NP_852126.1:p.Pro373Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2135497",
          "hgvs": "NM_181461.4:c.1118C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184229"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=287860[alleleid]",
        "alleleId": 287860,
        "preferredName": "NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/334559",
        "RCV": [
          "RCV000288552",
          "RCV000382870",
          "RCV001195199",
          "RCV001375455",
          "RCV001545472"
        ],
        "variationId": 334559
      }
    ]
  },
  "type": "amino-acid"
}