{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096979",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 2050,
          "referenceAllele": "V",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NP_000341.2:p.Val2050Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220688",
          "hgvs": "NM_000350.3:c.6148G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA645372399",
          "hgvs": "NM_000350.3:c.[6148G>C;5381C>A]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146895"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22923[alleleid]",
        "alleleId": 22923,
        "preferredName": "NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7884",
        "RCV": [
          "RCV000008335",
          "RCV000078671",
          "RCV000340261",
          "RCV000259072",
          "RCV000285333",
          "RCV000393715",
          "RCV000393726",
          "RCV000504806",
          "RCV000778139",
          "RCV000787769",
          "RCV001075661",
          "RCV002470704"
        ],
        "variationId": 7884
      }
    ]
  },
  "type": "amino-acid"
}