{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100458",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 473,
          "referenceAllele": "D",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "NP_000086.2:p.Asp473His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA404884543",
          "hgvs": "NM_000095.3:c.1417G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146647"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2670520[alleleid]",
        "alleleId": 2670520,
        "preferredName": "NM_000095.3(COMP):c.1417G>C (p.Asp473His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2505557",
        "RCV": [
          "RCV003234856"
        ],
        "variationId": 2505557
      }
    ]
  },
  "type": "amino-acid"
}