{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826377221",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 791,
          "referenceAllele": "F",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NP_001243142.1:p.Phe791Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341237",
          "hgvs": "NM_001256213.2:c.2371T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406039520",
          "hgvs": "NM_001256213.2:c.2373C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406039522",
          "hgvs": "NM_001256213.2:c.2373C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159597"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27952[alleleid]",
        "alleleId": 27952,
        "preferredName": "NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12913",
        "RCV": [
          "RCV000013776"
        ],
        "variationId": 12913
      }
    ]
  },
  "type": "amino-acid"
}