{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658813764",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 452,
          "referenceAllele": "A",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029239",
      "geneNCBI_id": 27152,
      "geneSymbol": "INTU",
      "hgvs": [
        "NP_056508.2:p.Ala452Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3075041",
          "hgvs": "NM_015693.3:c.1354G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174734"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=496110[alleleid]",
        "alleleId": 496110,
        "preferredName": "NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/504485",
        "RCV": [
          "RCV000598896",
          "RCV000851202",
          "RCV002248815",
          "RCV003935632"
        ],
        "variationId": 504485
      }
    ]
  },
  "type": "amino-acid"
}