{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828362974",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 146,
          "referenceAllele": "E",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NP_001356733.1:p.Glu146Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338877329",
          "hgvs": "NM_001369804.2:c.436G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709708"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2163325[alleleid]",
        "alleleId": 2163325,
        "preferredName": "NM_000478.6(ALPL):c.436G>C (p.Glu146Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2108152",
        "RCV": [
          "RCV003034022"
        ],
        "variationId": 2108152
      }
    ]
  },
  "type": "amino-acid"
}