{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645374938",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 199,
          "referenceAllele": "R",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "NP_775771.3:p.Arg199Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7517435",
          "hgvs": "NM_173500.4:c.595C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183379"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=340536[alleleid]",
        "alleleId": 340536,
        "preferredName": "NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/315998",
        "RCV": [
          "RCV000400925",
          "RCV001357218",
          "RCV001642984",
          "RCV002522790"
        ],
        "variationId": 315998
      }
    ]
  },
  "type": "amino-acid"
}