{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825069938",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 181,
          "referenceAllele": "E",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NP_000150.1:p.Glu181Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9234426",
          "hgvs": "NM_000159.4:c.541G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146709"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513374[alleleid]",
        "alleleId": 513374,
        "preferredName": "NM_000159.4(GCDH):c.541G>C (p.Glu181Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522644",
        "RCV": [
          "RCV000625783"
        ],
        "variationId": 522644
      }
    ]
  },
  "type": "amino-acid"
}