{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA120133",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 751,
          "referenceAllele": "R",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003146",
      "geneNCBI_id": 1889,
      "geneSymbol": "ECE1",
      "hgvs": [
        "NP_001106820.1:p.Arg751Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120130",
          "hgvs": "NM_001113349.2:c.2251C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151713"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24172[alleleid]",
        "alleleId": 24172,
        "preferredName": "NM_001397.3(ECE1):c.2260C>T (p.Arg754Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9133",
        "RCV": [
          "RCV000009704"
        ],
        "variationId": 9133
      }
    ]
  },
  "type": "amino-acid"
}