{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA129712",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 471,
          "referenceAllele": "R",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NP_777577.2:p.Arg471Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129711",
          "hgvs": "NM_174917.5:c.1412G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183607"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40095[alleleid]",
        "alleleId": 40095,
        "preferredName": "NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31138",
        "RCV": [
          "RCV000024134",
          "RCV001531864",
          "RCV003226167"
        ],
        "variationId": 31138
      }
    ]
  },
  "type": "amino-acid"
}