{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100058",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 70,
          "referenceAllele": "S",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NP_000362.1:p.Ser70Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256808",
          "hgvs": "NM_000371.3:c.210T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA260564",
          "hgvs": "NM_000371.3:c.208A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA260565",
          "hgvs": "NM_000371.3:c.210T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146915"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28468[alleleid]",
        "alleleId": 28468,
        "preferredName": "NM_000371.4(TTR):c.210T>G (p.Ser70Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45550[alleleid]",
        "alleleId": 45550,
        "preferredName": "NM_000371.4(TTR):c.208A>C (p.Ser70Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45551[alleleid]",
        "alleleId": 45551,
        "preferredName": "NM_000371.4(TTR):c.210T>A (p.Ser70Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13429",
        "RCV": [
          "RCV000014371",
          "RCV002415415",
          "RCV003480030"
        ],
        "variationId": 13429
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36889",
        "RCV": [
          "RCV000030571"
        ],
        "variationId": 36889
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36890",
        "RCV": [
          "RCV000030572",
          "RCV000517494",
          "RCV002415438"
        ],
        "variationId": 36890
      }
    ]
  },
  "type": "amino-acid"
}