{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA129708",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 359,
          "referenceAllele": "E",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NP_777577.2:p.Glu359Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129707",
          "hgvs": "NM_174917.5:c.1075G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183607"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40093[alleleid]",
        "alleleId": 40093,
        "preferredName": "NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31136",
        "RCV": [
          "RCV000024132",
          "RCV000185748",
          "RCV001274019",
          "RCV003415738"
        ],
        "variationId": 31136
      }
    ]
  },
  "type": "amino-acid"
}