{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825363589",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 240,
          "referenceAllele": "R",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NP_001035518.1:p.Arg240Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA246774",
          "hgvs": "NM_001040428.4:c.719G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150048"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195392[alleleid]",
        "alleleId": 195392,
        "preferredName": "NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198231",
        "RCV": [
          "RCV000179503",
          "RCV000289051",
          "RCV000642677"
        ],
        "variationId": 198231
      }
    ]
  },
  "type": "amino-acid"
}