{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828362290",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 181,
          "referenceAllele": "S",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NP_001356732.1:p.Ser181Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA273974",
          "hgvs": "NM_001369803.2:c.542C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709833"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186617[alleleid]",
        "alleleId": 186617,
        "preferredName": "NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188798",
        "RCV": [
          "RCV000169128",
          "RCV000729215",
          "RCV001196302",
          "RCV002265652",
          "RCV002505222",
          "RCV002516529",
          "RCV003462265"
        ],
        "variationId": 188798
      }
    ]
  },
  "type": "amino-acid"
}