{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826118991",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195,
          "referenceAllele": "R",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NP_001170991.1:p.Arg195Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256936",
          "hgvs": "NM_001177520.3:c.583C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156208"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28723[alleleid]",
        "alleleId": 28723,
        "preferredName": "NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13684",
        "RCV": [
          "RCV000014679",
          "RCV000169779",
          "RCV000817506",
          "RCV001804731",
          "RCV003473100",
          "RCV004549370"
        ],
        "variationId": 13684
      }
    ]
  },
  "type": "amino-acid"
}