{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828363266",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "A",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NP_001356733.1:p.Ala348Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338881075",
          "hgvs": "NM_001369804.2:c.1042G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709708"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=540861[alleleid]",
        "alleleId": 540861,
        "preferredName": "NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/555880",
        "RCV": [
          "RCV001378583",
          "RCV000671791",
          "RCV002265850",
          "RCV004547844",
          "RCV003465511"
        ],
        "variationId": 555880
      }
    ]
  },
  "type": "amino-acid"
}