{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA124650",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 70,
          "referenceAllele": "G",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NP_000510.1:p.Gly70Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124649",
          "hgvs": "NM_000519.4:c.208G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147054"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30089[alleleid]",
        "alleleId": 30089,
        "preferredName": "NM_000519.3(HBD):c.208G>C (p.Gly70Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15050",
        "RCV": [
          "RCV000016196"
        ],
        "variationId": 15050
      }
    ]
  },
  "type": "amino-acid"
}