{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825413447",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 143,
          "referenceAllele": "Q",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001638",
      "geneNCBI_id": 913,
      "geneSymbol": "CD1E",
      "hgvs": [
        "NP_001036049.1:p.Gln143Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342995925",
          "hgvs": "NM_001042584.3:c.428A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150240"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2257077[alleleid]",
        "alleleId": 2257077,
        "preferredName": "NM_030893.4(CD1E):c.428A>G (p.Gln143Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2268105",
        "RCV": [
          "RCV004123043"
        ],
        "variationId": 2268105
      }
    ]
  },
  "type": "amino-acid"
}