{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573072505",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 203,
          "referenceAllele": "E",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NP_001358857.1:p.Glu203Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16603694",
          "hgvs": "NM_001371928.1:c.607G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708068"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=365213[alleleid]",
        "alleleId": 365213,
        "preferredName": "NM_001371928.1(AHDC1):c.607G>C (p.Glu203Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/389464",
        "RCV": [
          "RCV000436730"
        ],
        "variationId": 389464
      }
    ]
  },
  "type": "amino-acid"
}