{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916029016",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 232,
          "referenceAllele": "L",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NP_001333644.1:p.Leu232Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253601",
          "hgvs": "NM_001346715.1:c.695T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622712"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20812[alleleid]",
        "alleleId": 20812,
        "preferredName": "NM_003919.3(SGCE):c.587T>G (p.Leu196Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5773",
        "RCV": [
          "RCV000006129"
        ],
        "variationId": 5773
      }
    ]
  },
  "type": "amino-acid"
}