{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827986185",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1417,
          "referenceAllele": "P",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NP_001341829.1:p.Pro1417Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009490",
          "hgvs": "NM_001354900.2:c.4249C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660145"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49969[alleleid]",
        "alleleId": 49969,
        "preferredName": "NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41530",
        "RCV": [
          "RCV000034415",
          "RCV000159555",
          "RCV000196865",
          "RCV000515179",
          "RCV003315548",
          "RCV003743552",
          "RCV003492325",
          "RCV003996164"
        ],
        "variationId": 41530
      }
    ]
  },
  "type": "amino-acid"
}