{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102984",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 231,
          "referenceAllele": "D",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001421",
      "geneNCBI_id": 788,
      "geneSymbol": "SLC25A20",
      "hgvs": [
        "NP_000378.1:p.Asp231His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA73980967",
          "hgvs": "NM_000387.6:c.691G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146930"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=631501[alleleid]",
        "alleleId": 631501,
        "preferredName": "NM_000387.6(SLC25A20):c.691G>C (p.Asp231His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/646763",
        "RCV": [
          "RCV000801119"
        ],
        "variationId": 646763
      }
    ]
  },
  "type": "amino-acid"
}