{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA250071",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 145,
          "referenceAllele": "R",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NP_000354.4:p.Arg145Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021673",
          "hgvs": "NM_000363.5:c.434G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146907"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52554[alleleid]",
        "alleleId": 52554,
        "preferredName": "NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43384",
        "RCV": [
          "RCV000159223",
          "RCV000200141",
          "RCV000208273",
          "RCV000621089",
          "RCV000763057",
          "RCV001178632",
          "RCV001807758"
        ],
        "variationId": 43384
      }
    ]
  },
  "type": "amino-acid"
}