{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826993997",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 117,
          "referenceAllele": "N",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030887",
      "geneNCBI_id": 51693,
      "geneSymbol": "TRAPPC2L",
      "hgvs": [
        "NP_001305453.1:p.Asn117Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397108385",
          "hgvs": "NM_001318524.2:c.350A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640163"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1018179[alleleid]",
        "alleleId": 1018179,
        "preferredName": "NM_001318525.2(TRAPPC2L):c.350A>G (p.Asn117Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1030538",
        "RCV": [
          "RCV001332113",
          "RCV004035730"
        ],
        "variationId": 1030538
      }
    ]
  },
  "type": "amino-acid"
}