{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA127409",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 646,
          "referenceAllele": "R",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NP_000333.1:p.Arg646Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127408",
          "hgvs": "NM_000342.4:c.1937G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146887"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32821[alleleid]",
        "alleleId": 32821,
        "preferredName": "NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17782",
        "RCV": [
          "RCV000019360",
          "RCV001001070",
          "RCV001127476",
          "RCV001127475",
          "RCV001127477",
          "RCV001507896"
        ],
        "variationId": 17782
      }
    ]
  },
  "type": "amino-acid"
}