{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828509453",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 393,
          "referenceAllele": "I",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NP_001361314.1:p.Ile393Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8974642",
          "hgvs": "NM_001374385.1:c.1177A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708258"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=256695[alleleid]",
        "alleleId": 256695,
        "preferredName": "NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/259815",
        "RCV": [
          "RCV000246161",
          "RCV000344311",
          "RCV000971960"
        ],
        "variationId": 259815
      }
    ]
  },
  "type": "amino-acid"
}