{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA119294",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 122,
          "referenceAllele": "R",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NP_000316.2:p.Arg122His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119291",
          "hgvs": "NM_000325.6:c.365G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146870"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23129[alleleid]",
        "alleleId": 23129,
        "preferredName": "NM_000325.6(PITX2):c.365G>A (p.Arg122His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8090",
        "RCV": [
          "RCV000008558",
          "RCV000271871"
        ],
        "variationId": 8090
      }
    ]
  },
  "type": "amino-acid"
}