{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3249364302",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 709,
          "referenceAllele": "D",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000032",
      "geneNCBI_id": 20,
      "geneSymbol": "ABCA2",
      "hgvs": [
        "NP_997698.1:p.Asp709Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA201709296",
          "hgvs": "NM_212533.3:c.2127T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375674319",
          "hgvs": "NM_212533.3:c.2127T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS186079"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4470062[alleleid]",
        "alleleId": 4470062,
        "preferredName": "NM_001606.5(ABCA2):c.2037T>G (p.Asp679Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4354544",
        "RCV": [
          "RCV006019693",
          "RCV006019692",
          "RCV006019691"
        ],
        "variationId": 4354544
      }
    ]
  },
  "type": "amino-acid"
}