{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573189430",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 964,
          "referenceAllele": "E",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NP_001243143.1:p.Glu964Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA406035581",
          "hgvs": "NM_001256214.2:c.2890G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159598"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1488862[alleleid]",
        "alleleId": 1488862,
        "preferredName": "NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1499117",
        "RCV": [
          "RCV002010428"
        ],
        "variationId": 1499117
      }
    ]
  },
  "type": "amino-acid"
}