{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125300",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1,
          "referenceAllele": "M",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NP_000509.1:p.Met1Arg"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147053"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30473[alleleid]",
        "alleleId": 30473,
        "preferredName": "NM_000518.5(HBB):c.2T>G (p.Met1Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15434",
        "RCV": [
          "RCV000016691",
          "RCV000505904",
          "RCV000664667",
          "RCV001004361"
        ],
        "variationId": 15434
      }
    ]
  },
  "type": "amino-acid"
}