{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645489924",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 2,
          "referenceAllele": "K",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007782",
      "geneNCBI_id": 4780,
      "geneSymbol": "NFE2L2",
      "hgvs": [
        "NP_001300833.1:p.Lys2Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602899",
          "hgvs": "NM_001313904.1:c.6G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA349380494",
          "hgvs": "NM_001313904.1:c.6G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166949"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363344[alleleid]",
        "alleleId": 363344,
        "preferredName": "NM_006164.5(NFE2L2):c.235G>C (p.Glu79Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2137409[alleleid]",
        "alleleId": 2137409,
        "preferredName": "NM_006164.5(NFE2L2):c.235G>T (p.Glu79Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376465",
        "RCV": [
          "RCV000419695",
          "RCV000420859",
          "RCV000426554",
          "RCV000431138",
          "RCV000437362",
          "RCV000436786"
        ],
        "variationId": 376465
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2087348",
        "RCV": [
          "RCV003009514"
        ],
        "variationId": 2087348
      }
    ]
  },
  "type": "amino-acid"
}