{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827326050",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001317507.1:p.Ala796Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388034776",
          "hgvs": "NM_001330578.2:c.2387C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622650"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1010912[alleleid]",
        "alleleId": 1010912,
        "preferredName": "NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1022669",
        "RCV": [
          "RCV001322608"
        ],
        "variationId": 1022669
      }
    ]
  },
  "type": "amino-acid"
}