{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826380839",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 160,
          "referenceAllele": "G",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012723",
      "geneNCBI_id": 30813,
      "geneSymbol": "VSX1",
      "hgvs": [
        "NP_001243200.1:p.Gly160Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117355",
          "hgvs": "NM_001256271.2:c.479G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159616"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20287[alleleid]",
        "alleleId": 20287,
        "preferredName": "NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5248",
        "RCV": [
          "RCV000005560",
          "RCV000454465",
          "RCV000358879",
          "RCV002054416"
        ],
        "variationId": 5248
      }
    ]
  },
  "type": "amino-acid"
}