{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA098204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 124,
          "referenceAllele": "R",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NP_000349.1:p.Arg124His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119122",
          "hgvs": "NM_000358.3:c.371G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146902"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22908[alleleid]",
        "alleleId": 22908,
        "preferredName": "NM_000358.3(TGFBI):c.371G>A (p.Arg124His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7869",
        "RCV": [
          "RCV000008318",
          "RCV001807721",
          "RCV001543464"
        ],
        "variationId": 7869
      }
    ]
  },
  "type": "amino-acid"
}