{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA252473",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 145,
          "referenceAllele": "Q",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NP_000010.1:p.Gln145Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252472",
          "hgvs": "NM_000019.4:c.433C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146572"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17885[alleleid]",
        "alleleId": 17885,
        "preferredName": "NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2846",
        "RCV": [
          "RCV000002980",
          "RCV003323348"
        ],
        "variationId": 2846
      }
    ]
  },
  "type": "amino-acid"
}