{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915960129",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 556,
          "referenceAllele": "R",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NP_000312.2:p.Arg556Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA029288",
          "hgvs": "NM_000321.3:c.1667G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146867"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=641991[alleleid]",
        "alleleId": 641991,
        "preferredName": "NM_000321.3(RB1):c.1667G>A (p.Arg556Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/639950",
        "RCV": [
          "RCV000792877",
          "RCV002397570"
        ],
        "variationId": 639950
      }
    ]
  },
  "type": "amino-acid"
}