{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA095757",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NP_000341.2:p.Cys230Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043373",
          "hgvs": "NM_000350.3:c.688T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA341289347",
          "hgvs": "NM_000350.3:c.689G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146895"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360817[alleleid]",
        "alleleId": 360817,
        "preferredName": "NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373916",
        "RCV": [
          "RCV000415009",
          "RCV001199212",
          "RCV001861442"
        ],
        "variationId": 373916
      }
    ]
  },
  "type": "amino-acid"
}