{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139693032",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 53,
          "referenceAllele": "S",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001917",
      "geneNCBI_id": 1106,
      "geneSymbol": "CHD2",
      "hgvs": [
        "NP_001262.3:p.Ser53Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7747449",
          "hgvs": "NM_001271.4:c.158C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161296"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=927499[alleleid]",
        "alleleId": 927499,
        "preferredName": "NM_001271.4(CHD2):c.158C>T (p.Ser53Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/952321",
        "RCV": [
          "RCV001224414"
        ],
        "variationId": 952321
      }
    ]
  },
  "type": "amino-acid"
}