{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139679527",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 423,
          "referenceAllele": "P",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001961",
      "geneNCBI_id": 1140,
      "geneSymbol": "CHRNB1",
      "hgvs": [
        "NP_000738.2:p.Pro423Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8348025",
          "hgvs": "NM_000747.3:c.1268C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147257"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=878373[alleleid]",
        "alleleId": 878373,
        "preferredName": "NM_000747.3(CHRNB1):c.1268C>A (p.Pro423Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/888630",
        "RCV": [
          "RCV001122101",
          "RCV001211442",
          "RCV002556628",
          "RCV003145354"
        ],
        "variationId": 888630
      }
    ]
  },
  "type": "amino-acid"
}