{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099576",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 117,
          "referenceAllele": "A",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NP_000362.1:p.Ala117Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256859",
          "hgvs": "NM_000371.3:c.349G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146915"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28507[alleleid]",
        "alleleId": 28507,
        "preferredName": "NM_000371.4(TTR):c.349G>T (p.Ala117Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13468",
        "RCV": [
          "RCV000014410",
          "RCV000223869",
          "RCV002453260",
          "RCV002496359"
        ],
        "variationId": 13468
      }
    ]
  },
  "type": "amino-acid"
}