{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827949748",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 372,
          "referenceAllele": "N",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NP_001341825.1:p.Asn372Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA026723",
          "hgvs": "NM_001354896.2:c.1114A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660234"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212401[alleleid]",
        "alleleId": 212401,
        "preferredName": "NM_000038.6(APC):c.1114A>G (p.Asn372Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216148",
        "RCV": [
          "RCV000581511",
          "RCV002469059",
          "RCV003534466"
        ],
        "variationId": 216148
      }
    ]
  },
  "type": "amino-acid"
}