{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916051148",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 200,
          "referenceAllele": "D",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018856",
      "geneNCBI_id": 90993,
      "geneSymbol": "CREB3L1",
      "hgvs": [
        "NP_443086.1:p.Asp200Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5961637",
          "hgvs": "NM_052854.4:c.599A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180374"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=724447[alleleid]",
        "alleleId": 724447,
        "preferredName": "NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/710354",
        "RCV": [
          "RCV000881913",
          "RCV001334433",
          "RCV003920559"
        ],
        "variationId": 710354
      }
    ]
  },
  "type": "amino-acid"
}