{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA338139",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1447,
          "referenceAllele": "S",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NP_001120983.2:p.Ser1447Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA038949",
          "hgvs": "NM_001127511.3:c.4341T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16030951",
          "hgvs": "NM_001127511.3:c.4339A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16030957",
          "hgvs": "NM_001127511.3:c.4341T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152109"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212427[alleleid]",
        "alleleId": 212427,
        "preferredName": "NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216164",
        "RCV": [
          "RCV000198718",
          "RCV000236990",
          "RCV000446409",
          "RCV000766728",
          "RCV003534469",
          "RCV003996975"
        ],
        "variationId": 216164
      }
    ]
  },
  "type": "amino-acid"
}