{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827378205",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 281,
          "referenceAllele": "R",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002342",
      "geneNCBI_id": 1384,
      "geneSymbol": "CRAT",
      "hgvs": [
        "NP_001333478.2:p.Arg281His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5275561",
          "hgvs": "NM_001346549.2:c.842G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709241"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=494918[alleleid]",
        "alleleId": 494918,
        "preferredName": "NM_000755.5(CRAT):c.962G>A (p.Arg321His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/503495",
        "RCV": [
          "RCV000594657",
          "RCV000709992",
          "RCV002531113"
        ],
        "variationId": 503495
      }
    ]
  },
  "type": "amino-acid"
}