{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828325079",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 41,
          "referenceAllele": "S",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NP_001356320.1:p.Ser41Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270396",
          "hgvs": "NM_001369391.2:c.122C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709823"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153294[alleleid]",
        "alleleId": 153294,
        "preferredName": "NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143562",
        "RCV": [
          "RCV000133095",
          "RCV000375578",
          "RCV000698431",
          "RCV002371979"
        ],
        "variationId": 143562
      }
    ]
  },
  "type": "amino-acid"
}