{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA103436",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "referenceAllele": "R",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "NP_060859.4:p.Arg147Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253271",
          "hgvs": "NM_018389.5:c.439C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176233"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19778[alleleid]",
        "alleleId": 19778,
        "preferredName": "NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4739",
        "RCV": [
          "RCV000005005"
        ],
        "variationId": 4739
      }
    ]
  },
  "type": "amino-acid"
}