{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891865545",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 70,
          "referenceAllele": "D",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NP_005594.2:p.Asp70Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118646",
          "hgvs": "NM_005603.6:c.208G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618153"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22310[alleleid]",
        "alleleId": 22310,
        "preferredName": "NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7271",
        "RCV": [
          "RCV000007694",
          "RCV000177233",
          "RCV000661994",
          "RCV000661995",
          "RCV000661996",
          "RCV000952767"
        ],
        "variationId": 7271
      }
    ]
  },
  "type": "amino-acid"
}