{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916008999",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 785,
          "referenceAllele": "S",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NP_001243143.1:p.Ser785Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16620856",
          "hgvs": "NM_001256214.2:c.2354G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159598"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410623[alleleid]",
        "alleleId": 410623,
        "preferredName": "NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421593",
        "RCV": [
          "RCV000482035",
          "RCV001210745"
        ],
        "variationId": 421593
      }
    ]
  },
  "type": "amino-acid"
}