{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116468",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1999,
          "referenceAllele": "V",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NP_001288294.1:p.Val1999Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116465",
          "hgvs": "NM_001301365.1:c.5996T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165659"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18856[alleleid]",
        "alleleId": 18856,
        "preferredName": "NM_000081.4(LYST):c.5996T>A (p.Val1999Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3817",
        "RCV": [
          "RCV000004021",
          "RCV000055738"
        ],
        "variationId": 3817
      }
    ]
  },
  "type": "amino-acid"
}