{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111734",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 123,
          "referenceAllele": "C",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NP_001195.2:p.Cys123Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278091",
          "hgvs": "NM_001204.7:c.367T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158461"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23847[alleleid]",
        "alleleId": 23847,
        "preferredName": "NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8808",
        "RCV": [
          "RCV000009353",
          "RCV001003665",
          "RCV001823870"
        ],
        "variationId": 8808
      }
    ]
  },
  "type": "amino-acid"
}