{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828509882",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 153,
          "referenceAllele": "K",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NP_001361315.1:p.Lys153Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA247228",
          "hgvs": "NM_001374386.1:c.457A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708253"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195693[alleleid]",
        "alleleId": 195693,
        "preferredName": "NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198532",
        "RCV": [
          "RCV000179906",
          "RCV000724145",
          "RCV001123726",
          "RCV002485177",
          "RCV004553016"
        ],
        "variationId": 198532
      }
    ]
  },
  "type": "amino-acid"
}