{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825550098",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 79,
          "referenceAllele": "Q",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015882",
      "geneNCBI_id": 55251,
      "geneSymbol": "PCMTD2",
      "hgvs": [
        "NP_001098395.1:p.Gln79Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9975581",
          "hgvs": "NM_001104925.2:c.235C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151532"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2444011[alleleid]",
        "alleleId": 2444011,
        "preferredName": "NM_018257.3(PCMTD2):c.235C>G (p.Gln79Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2465233",
        "RCV": [
          "RCV004258333"
        ],
        "variationId": 2465233
      }
    ]
  },
  "type": "amino-acid"
}