{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826317737",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 649,
          "referenceAllele": "P",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001230111.1:p.Pro649Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6989074",
          "hgvs": "NM_001243182.2:c.1946C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547681[alleleid]",
        "alleleId": 547681,
        "preferredName": "NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/552367",
        "RCV": [
          "RCV000667611"
        ],
        "variationId": 552367
      }
    ]
  },
  "type": "amino-acid"
}