{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111492",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 134,
          "referenceAllele": "K",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NP_001191326.1:p.Lys134Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129016",
          "hgvs": "NM_001204397.2:c.400A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158096"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39153[alleleid]",
        "alleleId": 39153,
        "preferredName": "NM_000325.6(PITX2):c.421A>G (p.Lys141Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30197",
        "RCV": [
          "RCV000023116"
        ],
        "variationId": 30197
      }
    ]
  },
  "type": "amino-acid"
}