{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826317990",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 828,
          "referenceAllele": "W",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001230111.1:p.Trp828Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16041667",
          "hgvs": "NM_001243182.2:c.2484G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388033509",
          "hgvs": "NM_001243182.2:c.2484G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358224[alleleid]",
        "alleleId": 358224,
        "preferredName": "NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1435127[alleleid]",
        "alleleId": 1435127,
        "preferredName": "NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371483",
        "RCV": [
          "RCV000410917",
          "RCV003480625"
        ],
        "variationId": 371483
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1409871",
        "RCV": [
          "RCV001916111"
        ],
        "variationId": 1409871
      }
    ]
  },
  "type": "amino-acid"
}