{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830294637",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 43,
          "referenceAllele": "R",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NP_689509.1:p.Arg43Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9467949",
          "hgvs": "NM_152296.5:c.128G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182275"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=847753[alleleid]",
        "alleleId": 847753,
        "preferredName": "NM_152296.5(ATP1A3):c.128G>A (p.Arg43Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/845078",
        "RCV": [
          "RCV001048072",
          "RCV003425895",
          "RCV004031492"
        ],
        "variationId": 845078
      }
    ]
  },
  "type": "amino-acid"
}