{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825037991",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 343,
          "referenceAllele": "S",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_000044.2:p.Ser343Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388039449",
          "hgvs": "NM_000053.4:c.1027T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146606"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1386223[alleleid]",
        "alleleId": 1386223,
        "preferredName": "NM_000053.4(ATP7B):c.1027T>C (p.Ser343Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1364284",
        "RCV": [
          "RCV001937418"
        ],
        "variationId": 1364284
      }
    ]
  },
  "type": "amino-acid"
}