{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100729",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 815,
          "referenceAllele": "E",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NP_689509.1:p.Glu815Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342903",
          "hgvs": "NM_152296.5:c.2443G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182275"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45778[alleleid]",
        "alleleId": 45778,
        "preferredName": "NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37108",
        "RCV": [
          "RCV000030750",
          "RCV000432504",
          "RCV000469482",
          "RCV000626997",
          "RCV000763433",
          "RCV001192636",
          "RCV001267254",
          "RCV002243675",
          "RCV001807744",
          "RCV004546416"
        ],
        "variationId": 37108
      }
    ]
  },
  "type": "amino-acid"
}