{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645471469",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 530,
          "referenceAllele": "D",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "NP_000086.2:p.Asp530Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9316351",
          "hgvs": "NM_000095.3:c.1590C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA404883017",
          "hgvs": "NM_000095.3:c.1590C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146647"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=348428[alleleid]",
        "alleleId": 348428,
        "preferredName": "NM_000095.3(COMP):c.1590C>A (p.Asp530Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/328615",
        "RCV": [
          "RCV000320583",
          "RCV000375163",
          "RCV002521199",
          "RCV003897750"
        ],
        "variationId": 328615
      }
    ]
  },
  "type": "amino-acid"
}