{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645375008",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1140,
          "referenceAllele": "P",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "NP_775771.3:p.Pro1140Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7516580",
          "hgvs": "NM_173500.4:c.3418C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183379"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338892[alleleid]",
        "alleleId": 338892,
        "preferredName": "NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/315977",
        "RCV": [
          "RCV000298038",
          "RCV001289307",
          "RCV002520956"
        ],
        "variationId": 315977
      }
    ]
  },
  "type": "amino-acid"
}