{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826317467",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 430,
          "referenceAllele": "E",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001230111.1:p.Glu430Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220306",
          "hgvs": "NM_001243182.2:c.1288G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98297[alleleid]",
        "alleleId": 98297,
        "preferredName": "NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92386",
        "RCV": [
          "RCV000487499",
          "RCV000670794",
          "RCV004017388"
        ],
        "variationId": 92386
      }
    ]
  },
  "type": "amino-acid"
}