{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826864895",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NP_001288068.1:p.Cys207Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA368232235",
          "hgvs": "NM_001301139.2:c.620G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368232241",
          "hgvs": "NM_001301139.2:c.619T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165592"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=798593[alleleid]",
        "alleleId": 798593,
        "preferredName": "NM_003919.3(SGCE):c.742T>A (p.Cys248Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/807491",
        "RCV": [
          "RCV000995640"
        ],
        "variationId": 807491
      }
    ]
  },
  "type": "amino-acid"
}