{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658831699",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 597,
          "referenceAllele": "N",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NP_055306.1:p.Asn597His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4446208",
          "hgvs": "NM_014491.4:c.1789A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173764"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244039[alleleid]",
        "alleleId": 244039,
        "preferredName": "NM_014491.4(FOXP2):c.1789A>C (p.Asn597His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242952",
        "RCV": [
          "RCV000234955"
        ],
        "variationId": 242952
      }
    ]
  },
  "type": "amino-acid"
}