{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916009040",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 818,
          "referenceAllele": "D",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NP_001243143.1:p.Asp818Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346025",
          "hgvs": "NM_001256214.2:c.2454C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406039211",
          "hgvs": "NM_001256214.2:c.2454C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159598"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=170978[alleleid]",
        "alleleId": 170978,
        "preferredName": "NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1324447[alleleid]",
        "alleleId": 1324447,
        "preferredName": "NM_152296.5(ATP1A3):c.2415C>A (p.Asp805Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161141",
        "RCV": [
          "RCV001058556"
        ],
        "variationId": 161141
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1333676",
        "RCV": [
          "RCV001808892"
        ],
        "variationId": 1333676
      }
    ]
  },
  "type": "amino-acid"
}