{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096122",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015492",
      "geneNCBI_id": 56172,
      "geneSymbol": "ANKH",
      "hgvs": [
        "NP_473368.1:p.Gly389Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130551",
          "hgvs": "NM_054027.6:c.1165G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA359245168",
          "hgvs": "NM_054027.6:c.1165G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180546"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20231[alleleid]",
        "alleleId": 20231,
        "preferredName": "NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5192",
        "RCV": [
          "RCV000005502",
          "RCV000032998"
        ],
        "variationId": 5192
      }
    ]
  },
  "type": "amino-acid"
}