{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA347780",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 167,
          "referenceAllele": "L",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000613",
      "geneNCBI_id": 348,
      "geneSymbol": "APOE",
      "hgvs": [
        "NP_000032.1:p.Leu167del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347779",
          "hgvs": "NM_000041.4:c.500_502del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146594"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=131982[alleleid]",
        "alleleId": 131982,
        "preferredName": "NM_000041.4(APOE):c.497TCC[1] (p.Leu167del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126456",
        "RCV": [
          "RCV000202536",
          "RCV002336246",
          "RCV003221804"
        ],
        "variationId": 126456
      }
    ]
  },
  "type": "amino-acid"
}