{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3077688816",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 389,
          "referenceAllele": "D",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001516",
      "geneNCBI_id": 847,
      "geneSymbol": "CAT",
      "hgvs": [
        "NP_001743.1:p.Asp389Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA380042729",
          "hgvs": "NM_001752.3:c.1167C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA380042730",
          "hgvs": "NM_001752.3:c.1167C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167641"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4487484[alleleid]",
        "alleleId": 4487484,
        "preferredName": "NM_001752.4(CAT):c.1167C>G (p.Asp389Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4371110",
        "RCV": [
          "RCV006042012",
          "RCV006042013"
        ],
        "variationId": 4371110
      }
    ]
  },
  "type": "amino-acid"
}