{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645398443",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 417,
          "referenceAllele": "H",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NP_777596.2:p.His417Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA036101",
          "hgvs": "NM_174936.4:c.1251C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA340477200",
          "hgvs": "NM_174936.4:c.1251C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=354066[alleleid]",
        "alleleId": 354066,
        "preferredName": "NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/369875",
        "RCV": [
          "RCV000408779",
          "RCV000417285",
          "RCV001176515",
          "RCV001194054",
          "RCV002411272",
          "RCV003332164"
        ],
        "variationId": 369875
      }
    ]
  },
  "type": "amino-acid"
}