{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573166759",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 507,
          "referenceAllele": "D",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NP_000312.2:p.Asp507His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388163333",
          "hgvs": "NM_000321.3:c.1519G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146867"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1515238[alleleid]",
        "alleleId": 1515238,
        "preferredName": "NM_000321.3(RB1):c.1519G>C (p.Asp507His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1517078",
        "RCV": [
          "RCV002027081",
          "RCV002256892",
          "RCV003154233"
        ],
        "variationId": 1517078
      }
    ]
  },
  "type": "amino-acid"
}