{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826689145",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 225,
          "referenceAllele": "E",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NP_001271245.1:p.Glu225Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8238230",
          "hgvs": "NM_001284316.2:c.675G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397148203",
          "hgvs": "NM_001284316.2:c.675G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163033"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=375624[alleleid]",
        "alleleId": 375624,
        "preferredName": "NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377432",
        "RCV": [
          "RCV000444454",
          "RCV001245382",
          "RCV002282137"
        ],
        "variationId": 377432
      }
    ]
  },
  "type": "amino-acid"
}