{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580529650",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 87,
          "referenceAllele": "F",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NP_700476.1:p.Phe87Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357984522",
          "hgvs": "NM_153427.3:c.261C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA357984523",
          "hgvs": "NM_153427.3:c.261C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA357984529",
          "hgvs": "NM_153427.3:c.259T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182902"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1685574[alleleid]",
        "alleleId": 1685574,
        "preferredName": "NM_000325.6(PITX2):c.418T>C (p.Phe140Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1693134",
        "RCV": [
          "RCV002293569"
        ],
        "variationId": 1693134
      }
    ]
  },
  "type": "amino-acid"
}