{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645446180",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 2243,
          "referenceAllele": "D",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NP_005493.2:p.Asp2243Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5167475",
          "hgvs": "NM_005502.4:c.6729C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374310808",
          "hgvs": "NM_005502.4:c.6729C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171128"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=315961[alleleid]",
        "alleleId": 315961,
        "preferredName": "NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364377",
        "RCV": [
          "RCV000268613",
          "RCV000321342",
          "RCV000879754",
          "RCV001255586",
          "RCV002365431"
        ],
        "variationId": 364377
      }
    ]
  },
  "type": "amino-acid"
}