{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829123378",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 255,
          "referenceAllele": "E",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NP_001373617.1:p.Glu255del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252466",
          "hgvs": "NM_001386688.1:c.765_767del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734640"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17880[alleleid]",
        "alleleId": 17880,
        "preferredName": "NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2841",
        "RCV": [
          "RCV000002975"
        ],
        "variationId": 2841
      }
    ]
  },
  "type": "amino-acid"
}