{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA204847",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 174,
          "referenceAllele": "Q",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008024",
      "geneNCBI_id": 4909,
      "geneSymbol": "NTF4",
      "hgvs": [
        "NP_006170.1:p.Gln174Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA204846",
          "hgvs": "NM_006179.5:c.521A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171741"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205315[alleleid]",
        "alleleId": 205315,
        "preferredName": "NM_006179.5(NTF4):c.521A>G (p.Gln174Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208763",
        "RCV": [
          "RCV000190785"
        ],
        "variationId": 208763
      }
    ]
  },
  "type": "amino-acid"
}