{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA256078",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1386,
          "referenceAllele": "P",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NP_000043.4:p.Pro1386Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256077",
          "hgvs": "NM_000052.7:c.4156C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146605"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26834[alleleid]",
        "alleleId": 26834,
        "preferredName": "NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11795",
        "RCV": [
          "RCV000012562",
          "RCV000789728",
          "RCV001206423",
          "RCV001696176"
        ],
        "variationId": 11795
      }
    ]
  },
  "type": "amino-acid"
}