{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA341104",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 434,
          "referenceAllele": "E",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000048",
      "geneNCBI_id": 22,
      "geneSymbol": "ABCB7",
      "hgvs": [
        "NP_004290.2:p.Glu434Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341103",
          "hgvs": "NM_004299.6:c.1300G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170012"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26614[alleleid]",
        "alleleId": 26614,
        "preferredName": "NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11575",
        "RCV": [
          "RCV000012331"
        ],
        "variationId": 11575
      }
    ]
  },
  "type": "amino-acid"
}