{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096022",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1961,
          "referenceAllele": "G",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NP_000341.2:p.Gly1961Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119132",
          "hgvs": "NM_000350.3:c.5882G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA913203331",
          "hgvs": "NM_000350.3:c.[5882G>A;5512C>G]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146895"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22927[alleleid]",
        "alleleId": 22927,
        "preferredName": "NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7888",
        "RCV": [
          "RCV000008339",
          "RCV000008340",
          "RCV000008341",
          "RCV000078670",
          "RCV000273328",
          "RCV000504952",
          "RCV000505149",
          "RCV000624210",
          "RCV000678513",
          "RCV000787514",
          "RCV001254602",
          "RCV001807001",
          "RCV001542557",
          "RCV001731281",
          "RCV002247269",
          "RCV003324710"
        ],
        "variationId": 7888
      }
    ]
  },
  "type": "amino-acid"
}