{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830272216",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 216,
          "referenceAllele": "Q",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029579",
      "geneNCBI_id": 132671,
      "geneSymbol": "SPATA18",
      "hgvs": [
        "NP_660306.1:p.Gln216Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA356872637",
          "hgvs": "NM_145263.4:c.646C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181940"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2238320[alleleid]",
        "alleleId": 2238320,
        "preferredName": "NM_145263.4(SPATA18):c.646C>G (p.Gln216Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2250198",
        "RCV": [
          "RCV004113396"
        ],
        "variationId": 2250198
      }
    ]
  },
  "type": "amino-acid"
}