{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA313279",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 383,
          "referenceAllele": "R",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000800",
      "geneNCBI_id": 477,
      "geneSymbol": "ATP1A2",
      "hgvs": [
        "NP_000693.1:p.Arg383His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA313277",
          "hgvs": "NM_000702.4:c.1148G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147217"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201080[alleleid]",
        "alleleId": 201080,
        "preferredName": "NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204886",
        "RCV": [
          "RCV000186788",
          "RCV002247600",
          "RCV003584560"
        ],
        "variationId": 204886
      }
    ]
  },
  "type": "amino-acid"
}