{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2742012247",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "referenceAllele": "R",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026837",
      "geneNCBI_id": 139285,
      "geneSymbol": "AMER1",
      "hgvs": [
        "NP_689637.3:p.Arg634Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA329956090",
          "hgvs": "NM_152424.4:c.1900C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182388"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3151235[alleleid]",
        "alleleId": 3151235,
        "preferredName": "NM_152424.4(AMER1):c.1900C>T (p.Arg634Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2990981",
        "RCV": [
          "RCV003847660"
        ],
        "variationId": 2990981
      }
    ]
  },
  "type": "amino-acid"
}