{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100373",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 217,
          "referenceAllele": "R",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "NP_000363.1:p.Arg217Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA227580",
          "hgvs": "NM_000372.5:c.650G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146916"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=105464[alleleid]",
        "alleleId": 105464,
        "preferredName": "NM_000372.5(TYR):c.650G>A (p.Arg217Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99575",
        "RCV": [
          "RCV000085964",
          "RCV000194283",
          "RCV000778346",
          "RCV003467008"
        ],
        "variationId": 99575
      }
    ]
  },
  "type": "amino-acid"
}