{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830327762",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "referenceAllele": "W",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NP_700475.1:p.Trp132Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357984530",
          "hgvs": "NM_153426.3:c.396G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA357984531",
          "hgvs": "NM_153426.3:c.396G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182901"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1685573[alleleid]",
        "alleleId": 1685573,
        "preferredName": "NM_000325.6(PITX2):c.417G>T (p.Trp139Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1693133",
        "RCV": [
          "RCV002293568"
        ],
        "variationId": 1693133
      }
    ]
  },
  "type": "amino-acid"
}