{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828052112",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 666,
          "referenceAllele": "M",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NP_001343950.1:p.Met666Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3043882",
          "hgvs": "NM_001357021.2:c.1998G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA357884637",
          "hgvs": "NM_001357021.2:c.1998G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA357884638",
          "hgvs": "NM_001357021.2:c.1998G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=293437[alleleid]",
        "alleleId": 293437,
        "preferredName": "NM_001963.6(EGF):c.2124G>A (p.Met708Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/347245",
        "RCV": [
          "RCV000261366",
          "RCV001529738",
          "RCV001691992"
        ],
        "variationId": 347245
      }
    ]
  },
  "type": "amino-acid"
}