{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826955561",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 28,
          "referenceAllele": "D",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NP_001303266.1:p.Asp28Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA415176492",
          "hgvs": "NM_001316337.2:c.83A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167051"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1086998[alleleid]",
        "alleleId": 1086998,
        "preferredName": "NM_001110792.2(MECP2):c.398A>T (p.Asp133Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1098273",
        "RCV": [
          "RCV001420143"
        ],
        "variationId": 1098273
      }
    ]
  },
  "type": "amino-acid"
}