{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA124676",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "referenceAllele": "R",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NP_000510.1:p.Arg117Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124675",
          "hgvs": "NM_000519.4:c.349C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147054"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30105[alleleid]",
        "alleleId": 30105,
        "preferredName": "NM_000519.4(HBD):c.349C>T (p.Arg117Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15066",
        "RCV": [
          "RCV000016217",
          "RCV000016216"
        ],
        "variationId": 15066
      }
    ]
  },
  "type": "amino-acid"
}