{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580518067",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 94,
          "referenceAllele": "L",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NP_689509.1:p.Leu94Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA406056371",
          "hgvs": "NM_152296.5:c.281T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182275"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2058962[alleleid]",
        "alleleId": 2058962,
        "preferredName": "NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1992440",
        "RCV": [
          "RCV002795956"
        ],
        "variationId": 1992440
      }
    ]
  },
  "type": "amino-acid"
}