{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA120480",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 694,
          "referenceAllele": "L",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NP_005493.2:p.Leu694del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120479",
          "hgvs": "NM_005502.4:c.2080_2082del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171128"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24525[alleleid]",
        "alleleId": 24525,
        "preferredName": "NM_005502.4(ABCA1):c.2077CTT[1] (p.Leu694del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9486",
        "RCV": [
          "RCV000010094"
        ],
        "variationId": 9486
      }
    ]
  },
  "type": "amino-acid"
}