{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA288926",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 515,
          "referenceAllele": "E",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NP_742105.1:p.Glu515Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA288924",
          "hgvs": "NM_172107.3:c.1545G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA9958409",
          "hgvs": "NM_172107.3:c.1545G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183166"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34616[alleleid]",
        "alleleId": 34616,
        "preferredName": "NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=438756[alleleid]",
        "alleleId": 438756,
        "preferredName": "NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21764",
        "RCV": [
          "RCV000020972",
          "RCV000117341",
          "RCV000465560",
          "RCV001703417",
          "RCV002313718",
          "RCV003315295"
        ],
        "variationId": 21764
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/445484",
        "RCV": [
          "RCV000514872",
          "RCV000616102",
          "RCV001089306"
        ],
        "variationId": 445484
      }
    ]
  },
  "type": "amino-acid"
}