{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580347300",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 570,
          "referenceAllele": "A",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011590",
      "geneNCBI_id": 10716,
      "geneSymbol": "TBR1",
      "hgvs": [
        "NP_006584.1:p.Ala570Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1931008",
          "hgvs": "NM_006593.4:c.1709C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172130"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1834477[alleleid]",
        "alleleId": 1834477,
        "preferredName": "NM_006593.4(TBR1):c.1709C>T (p.Ala570Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1778505",
        "RCV": [
          "RCV002398844",
          "RCV003138251"
        ],
        "variationId": 1778505
      }
    ]
  },
  "type": "amino-acid"
}