{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096129",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NP_000341.2:p.Gly863Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119128",
          "hgvs": "NM_000350.3:c.2588G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146895"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22918[alleleid]",
        "alleleId": 22918,
        "preferredName": "NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7879",
        "RCV": [
          "RCV000008329",
          "RCV000008328",
          "RCV000085494",
          "RCV000415097",
          "RCV000505063",
          "RCV000623365",
          "RCV000787486",
          "RCV000787768",
          "RCV000787487",
          "RCV001198385",
          "RCV001535670",
          "RCV003224856",
          "RCV004532312"
        ],
        "variationId": 7879
      }
    ]
  },
  "type": "amino-acid"
}