{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499263998",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 330,
          "referenceAllele": "Q",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001936",
      "geneNCBI_id": 1118,
      "geneSymbol": "CHIT1",
      "hgvs": [
        "NP_003456.1:p.Gln330Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1339746",
          "hgvs": "NM_003465.3:c.988C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169248"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1153422[alleleid]",
        "alleleId": 1153422,
        "preferredName": "NM_003465.3(CHIT1):c.988C>G (p.Gln330Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1165707",
        "RCV": [
          "RCV001513050",
          "RCV003416378",
          "RCV004037922"
        ],
        "variationId": 1165707
      }
    ]
  },
  "type": "amino-acid"
}