{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA118238",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "A",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NP_000360.2:p.Ala553Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118236",
          "hgvs": "NM_000369.2:c.1657G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146913"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21484[alleleid]",
        "alleleId": 21484,
        "preferredName": "NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6445",
        "RCV": [
          "RCV000006815",
          "RCV000314691",
          "RCV002512853",
          "RCV004532302",
          "RCV003764533"
        ],
        "variationId": 6445
      }
    ]
  },
  "type": "amino-acid"
}