{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099994",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 53,
          "referenceAllele": "F",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NP_000362.1:p.Phe53Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256851",
          "hgvs": "NM_000371.3:c.157T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA402156787",
          "hgvs": "NM_000371.3:c.159C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA402156789",
          "hgvs": "NM_000371.3:c.159C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146915"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28495[alleleid]",
        "alleleId": 28495,
        "preferredName": "NM_000371.4(TTR):c.157T>C (p.Phe53Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13456",
        "RCV": [
          "RCV000014398",
          "RCV001810860",
          "RCV002390108"
        ],
        "variationId": 13456
      }
    ]
  },
  "type": "amino-acid"
}