{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827330098",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1146,
          "referenceAllele": "I",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001317508.1:p.Ile1146Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6988610",
          "hgvs": "NM_001330579.2:c.3436A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622633"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1376066[alleleid]",
        "alleleId": 1376066,
        "preferredName": "NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1497544",
        "RCV": [
          "RCV002019460"
        ],
        "variationId": 1497544
      }
    ]
  },
  "type": "amino-acid"
}