{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111006",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12,
          "referenceAllele": "S",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004092",
      "geneNCBI_id": 2571,
      "geneSymbol": "GAD1",
      "hgvs": [
        "NP_000808.2:p.Ser12Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117237",
          "hgvs": "NM_000817.3:c.35C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147322"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20099[alleleid]",
        "alleleId": 20099,
        "preferredName": "NM_000817.3(GAD1):c.35C>G (p.Ser12Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5060",
        "RCV": [
          "RCV001836701"
        ],
        "variationId": 5060
      }
    ]
  },
  "type": "amino-acid"
}