{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825279683",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 716,
          "referenceAllele": "N",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001005918.1:p.Asn716Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388034704",
          "hgvs": "NM_001005918.3:c.2148T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388034710",
          "hgvs": "NM_001005918.3:c.2148T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148283"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2737507[alleleid]",
        "alleleId": 2737507,
        "preferredName": "NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2572561",
        "RCV": [
          "RCV003314446"
        ],
        "variationId": 2572561
      }
    ]
  },
  "type": "amino-acid"
}