{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827982157",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 144,
          "referenceAllele": "Q",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000583",
      "geneNCBI_id": 324,
      "geneSymbol": "APC",
      "hgvs": [
        "NP_001341829.1:p.Gln144Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA010884",
          "hgvs": "NM_001354900.2:c.430C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660145"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49948[alleleid]",
        "alleleId": 49948,
        "preferredName": "NM_000038.6(APC):c.607C>G (p.Gln203Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41509",
        "RCV": [
          "RCV000034394",
          "RCV000115109",
          "RCV000120051",
          "RCV000709878",
          "RCV000757929",
          "RCV000987552",
          "RCV001156934",
          "RCV003534317"
        ],
        "variationId": 41509
      }
    ]
  },
  "type": "amino-acid"
}