{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093618",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 124,
          "referenceAllele": "C",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "NP_004320.2:p.Cys124Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA194624",
          "hgvs": "NM_004329.3:c.370T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170040"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23273[alleleid]",
        "alleleId": 23273,
        "preferredName": "NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8234",
        "RCV": [
          "RCV000165949",
          "RCV001836704",
          "RCV001797979",
          "RCV003473059"
        ],
        "variationId": 8234
      }
    ]
  },
  "type": "amino-acid"
}