{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091946",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 645,
          "referenceAllele": "M",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_000044.2:p.Met645Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252899",
          "hgvs": "NM_000053.4:c.1934T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146606"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18901[alleleid]",
        "alleleId": 18901,
        "preferredName": "NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3862",
        "RCV": [
          "RCV000004066",
          "RCV001508347",
          "RCV002408449",
          "RCV003398442"
        ],
        "variationId": 3862
      }
    ]
  },
  "type": "amino-acid"
}