{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139750348",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 262,
          "referenceAllele": "N",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NP_071882.1:p.Asn262Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1637170",
          "hgvs": "NM_022437.3:c.786C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA346666578",
          "hgvs": "NM_022437.3:c.786C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177834"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=884950[alleleid]",
        "alleleId": 884950,
        "preferredName": "NM_022437.3(ABCG8):c.786C>A (p.Asn262Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/898170",
        "RCV": [
          "RCV002411645",
          "RCV001141881"
        ],
        "variationId": 898170
      }
    ]
  },
  "type": "amino-acid"
}