{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830327797",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 137,
          "referenceAllele": "R",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NP_700475.1:p.Arg137Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA246272",
          "hgvs": "NM_153426.3:c.410G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182901"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195044[alleleid]",
        "alleleId": 195044,
        "preferredName": "NM_000325.6(PITX2):c.431G>A (p.Arg144Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197883",
        "RCV": [
          "RCV000179024",
          "RCV001852224",
          "RCV002293425"
        ],
        "variationId": 197883
      }
    ]
  },
  "type": "amino-acid"
}