{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916009031",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 814,
          "referenceAllele": "D",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NP_001243143.1:p.Asp814Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342902",
          "hgvs": "NM_001256214.2:c.2440G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159598"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45777[alleleid]",
        "alleleId": 45777,
        "preferredName": "NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37107",
        "RCV": [
          "RCV000030749",
          "RCV000413511",
          "RCV000515424",
          "RCV000624579",
          "RCV000644928",
          "RCV001004008",
          "RCV001265551",
          "RCV002281545"
        ],
        "variationId": 37107
      }
    ]
  },
  "type": "amino-acid"
}