{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA199214",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 2498,
          "referenceAllele": "G",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006181",
      "geneNCBI_id": 3709,
      "geneSymbol": "ITPR2",
      "hgvs": [
        "NP_002214.2:p.Gly2498Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA199213",
          "hgvs": "NM_002223.4:c.7492G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168093"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187204[alleleid]",
        "alleleId": 187204,
        "preferredName": "NM_002223.4(ITPR2):c.7492G>A (p.Gly2498Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189316",
        "RCV": [
          "RCV000169736"
        ],
        "variationId": 189316
      }
    ]
  },
  "type": "amino-acid"
}