{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111630",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 353,
          "referenceAllele": "R",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010982",
      "geneNCBI_id": 8604,
      "geneSymbol": "SLC25A12",
      "hgvs": [
        "NP_003696.2:p.Arg353Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10602462",
          "hgvs": "NM_003705.5:c.1058G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169471"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247548[alleleid]",
        "alleleId": 247548,
        "preferredName": "NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253136",
        "RCV": [
          "RCV000239515",
          "RCV001222846"
        ],
        "variationId": 253136
      }
    ]
  },
  "type": "amino-acid"
}