{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826271546",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 119,
          "referenceAllele": "A",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NP_001191326.1:p.Ala119Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357985434",
          "hgvs": "NM_001204397.2:c.355G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158096"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3101032[alleleid]",
        "alleleId": 3101032,
        "preferredName": "NM_000325.6(PITX2):c.376G>C (p.Ala126Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2942566",
        "RCV": [
          "RCV003807732"
        ],
        "variationId": 2942566
      }
    ]
  },
  "type": "amino-acid"
}