{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573159682",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1270,
          "referenceAllele": "N",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_000044.2:p.Asn1270Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6988565",
          "hgvs": "NM_000053.4:c.3809A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146606"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1677272[alleleid]",
        "alleleId": 1677272,
        "preferredName": "NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1685251",
        "RCV": [
          "RCV002248978"
        ],
        "variationId": 1685251
      }
    ]
  },
  "type": "amino-acid"
}