{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645392972",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 314,
          "referenceAllele": "R",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024464",
      "geneNCBI_id": 113189,
      "geneSymbol": "CHST14",
      "hgvs": [
        "NP_569735.1:p.Arg314Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7481671",
          "hgvs": "NM_130468.4:c.941G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180895"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271609[alleleid]",
        "alleleId": 271609,
        "preferredName": "NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287372",
        "RCV": [
          "RCV000268389",
          "RCV001270131",
          "RCV004021221"
        ],
        "variationId": 287372
      }
    ]
  },
  "type": "amino-acid"
}