{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827326175",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 843,
          "referenceAllele": "S",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001317507.1:p.Ser843Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250084899",
          "hgvs": "NM_001330578.2:c.2529T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388033818",
          "hgvs": "NM_001330578.2:c.2529T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388033834",
          "hgvs": "NM_001330578.2:c.2527A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622650"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1874640[alleleid]",
        "alleleId": 1874640,
        "preferredName": "NM_000053.4(ATP7B):c.2763T>A (p.Ser921Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3041994[alleleid]",
        "alleleId": 3041994,
        "preferredName": "NM_000053.4(ATP7B):c.2763T>G (p.Ser921Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2137521",
        "RCV": [
          "RCV003062596"
        ],
        "variationId": 2137521
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2879092",
        "RCV": [
          "RCV003610662"
        ],
        "variationId": 2879092
      }
    ]
  },
  "type": "amino-acid"
}