{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA16040052",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1973,
          "referenceAllele": "S",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NP_000029.2:p.Ser1973Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10578414",
          "hgvs": "NM_000038.6:c.5918G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146591"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233159[alleleid]",
        "alleleId": 233159,
        "preferredName": "NM_000038.6(APC):c.5918G>A (p.Ser1973Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/232146",
        "RCV": [
          "RCV000218058",
          "RCV001563151",
          "RCV003488476",
          "RCV002515656",
          "RCV003997947"
        ],
        "variationId": 232146
      }
    ]
  },
  "type": "amino-acid"
}