{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA252493",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1808,
          "referenceAllele": "S",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009834",
      "geneNCBI_id": 10743,
      "geneSymbol": "RAI1",
      "hgvs": [
        "NP_109590.3:p.Ser1808Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252492",
          "hgvs": "NM_030665.4:c.5423G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178905"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17988[alleleid]",
        "alleleId": 17988,
        "preferredName": "NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2949",
        "RCV": [
          "RCV000003083",
          "RCV002054412"
        ],
        "variationId": 2949
      }
    ]
  },
  "type": "amino-acid"
}