{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA211251",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "referenceAllele": "R",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NP_001104262.1:p.Arg145Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA211250",
          "hgvs": "NM_001110792.2:c.433C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151647"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26848[alleleid]",
        "alleleId": 26848,
        "preferredName": "NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11809",
        "RCV": [
          "RCV000012578",
          "RCV000030666",
          "RCV000081202",
          "RCV000170107",
          "RCV000169934",
          "RCV000445570",
          "RCV000460141",
          "RCV000624907",
          "RCV001257757",
          "RCV002273925",
          "RCV003984804"
        ],
        "variationId": 11809
      }
    ]
  },
  "type": "amino-acid"
}