{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826317844",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 721,
          "referenceAllele": "K",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001230111.1:p.Lys721Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145674",
          "hgvs": "NM_001243182.2:c.2162A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2499222479",
          "hgvs": "NM_001243182.2:c.2162_2163delinsGA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44371[alleleid]",
        "alleleId": 44371,
        "preferredName": "NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1123417[alleleid]",
        "alleleId": 1123417,
        "preferredName": "NM_000053.4(ATP7B):c.2495_2496delinsGA (p.Lys832Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35707",
        "RCV": [
          "RCV000029356",
          "RCV000078043",
          "RCV001354224",
          "RCV002426518"
        ],
        "variationId": 35707
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1122352",
        "RCV": [
          "RCV001453014"
        ],
        "variationId": 1122352
      }
    ]
  },
  "type": "amino-acid"
}