{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741899267",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 665,
          "referenceAllele": "Y",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011785",
      "geneNCBI_id": 7057,
      "geneSymbol": "THBS1",
      "hgvs": [
        "NP_003237.2:p.Tyr665His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7472120",
          "hgvs": "NM_003246.4:c.1993T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169044"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2761591[alleleid]",
        "alleleId": 2761591,
        "preferredName": "NM_003246.4(THBS1):c.1993T>C (p.Tyr665His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2591411",
        "RCV": [
          "RCV004337219"
        ],
        "variationId": 2591411
      }
    ]
  },
  "type": "amino-acid"
}