{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057252040",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 192,
          "referenceAllele": "K",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NP_004983.1:p.Lys192Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA415173368",
          "hgvs": "NM_004992.4:c.574A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170660"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3411600[alleleid]",
        "alleleId": 3411600,
        "preferredName": "NM_001110792.2(MECP2):c.610A>G (p.Lys204Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3252806",
        "RCV": [
          "RCV004590778"
        ],
        "variationId": 3252806
      }
    ]
  },
  "type": "amino-acid"
}