{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645490608",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 120,
          "referenceAllele": "S",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001421",
      "geneNCBI_id": 788,
      "geneSymbol": "SLC25A20",
      "hgvs": [
        "NP_000378.1:p.Ser120Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2387414",
          "hgvs": "NM_000387.6:c.358T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146930"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=291044[alleleid]",
        "alleleId": 291044,
        "preferredName": "NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/345941",
        "RCV": [
          "RCV000293988",
          "RCV000507911",
          "RCV003298404"
        ],
        "variationId": 345941
      }
    ]
  },
  "type": "amino-acid"
}