{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645374972",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 760,
          "referenceAllele": "P",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "NP_775771.3:p.Pro760Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7516758",
          "hgvs": "NM_173500.4:c.2278C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183379"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=340527[alleleid]",
        "alleleId": 340527,
        "preferredName": "NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/315987",
        "RCV": [
          "RCV000275220",
          "RCV002522788",
          "RCV003105867"
        ],
        "variationId": 315987
      }
    ]
  },
  "type": "amino-acid"
}