{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099879",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 127,
          "referenceAllele": "I",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NP_000362.1:p.Ile127Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256843",
          "hgvs": "NM_000371.3:c.379A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146915"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28489[alleleid]",
        "alleleId": 28489,
        "preferredName": "NM_000371.4(TTR):c.379A>G (p.Ile127Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13450",
        "RCV": [
          "RCV000014392",
          "RCV000506089",
          "RCV001090344",
          "RCV002354161",
          "RCV002504784",
          "RCV003458163"
        ],
        "variationId": 13450
      }
    ]
  },
  "type": "amino-acid"
}