{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499231601",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1083,
          "referenceAllele": "V",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NP_000341.2:p.Val1083Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341292199",
          "hgvs": "NM_000350.3:c.3248T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146895"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1023539[alleleid]",
        "alleleId": 1023539,
        "preferredName": "NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1045711",
        "RCV": [
          "RCV001350170"
        ],
        "variationId": 1045711
      }
    ]
  },
  "type": "amino-acid"
}