{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116439",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 402,
          "referenceAllele": "R",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "NP_000363.1:p.Arg402Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116438",
          "hgvs": "NM_000372.5:c.1205G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146916"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18818[alleleid]",
        "alleleId": 18818,
        "preferredName": "NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3779",
        "RCV": [
          "RCV000003978",
          "RCV000003979",
          "RCV000003980",
          "RCV000003981",
          "RCV000003982",
          "RCV000085910",
          "RCV000254054",
          "RCV000500466",
          "RCV000626673",
          "RCV000721172",
          "RCV001269379",
          "RCV003985252"
        ],
        "variationId": 3779
      }
    ]
  },
  "type": "amino-acid"
}