{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829453890",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129,
          "referenceAllele": "I",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
      "geneSymbol": "SGCE",
      "hgvs": [
        "NP_003910.1:p.Ile129Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA368237723",
          "hgvs": "NM_003919.3:c.386T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169673"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=924957[alleleid]",
        "alleleId": 924957,
        "preferredName": "NM_003919.3(SGCE):c.386T>C (p.Ile129Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/946966",
        "RCV": [
          "RCV001217933"
        ],
        "variationId": 946966
      }
    ]
  },
  "type": "amino-acid"
}