{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645463204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 508,
          "referenceAllele": "S",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NP_000360.2:p.Ser508Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7294468",
          "hgvs": "NM_000369.2:c.1523C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146913"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409158[alleleid]",
        "alleleId": 409158,
        "preferredName": "NM_000369.5(TSHR):c.1523C>T (p.Ser508Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418666",
        "RCV": [
          "RCV000487167"
        ],
        "variationId": 418666
      }
    ]
  },
  "type": "amino-acid"
}