{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139677885",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 81,
          "referenceAllele": "R",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NP_001120973.2:p.Arg81Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA666477",
          "hgvs": "NM_001127501.4:c.241C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152105"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=941693[alleleid]",
        "alleleId": 941693,
        "preferredName": "NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/964572",
        "RCV": [
          "RCV001253680",
          "RCV001238820",
          "RCV001257429",
          "RCV002290655",
          "RCV003235509"
        ],
        "variationId": 964572
      }
    ]
  },
  "type": "amino-acid"
}