{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827330435",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1279,
          "referenceAllele": "S",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001317508.1:p.Ser1279Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274112",
          "hgvs": "NM_001330579.2:c.3836C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622633"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186873[alleleid]",
        "alleleId": 186873,
        "preferredName": "NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188908",
        "RCV": [
          "RCV000169268",
          "RCV003480071"
        ],
        "variationId": 188908
      }
    ]
  },
  "type": "amino-acid"
}