{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916055323",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 86,
          "referenceAllele": "W",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NP_700476.1:p.Trp86Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357984533",
          "hgvs": "NM_153427.3:c.257G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182902"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=631862[alleleid]",
        "alleleId": 631862,
        "preferredName": "NM_000325.6(PITX2):c.416G>C (p.Trp139Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/647394",
        "RCV": [
          "RCV000801898",
          "RCV002293482"
        ],
        "variationId": 647394
      }
    ]
  },
  "type": "amino-acid"
}