{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825185130",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 116,
          "referenceAllele": "A",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NP_000469.3:p.Ala116Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338877148",
          "hgvs": "NM_000478.6:c.346G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147013"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1347958[alleleid]",
        "alleleId": 1347958,
        "preferredName": "NM_000478.6(ALPL):c.346G>T (p.Ala116Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1466600",
        "RCV": [
          "RCV001966113"
        ],
        "variationId": 1466600
      }
    ]
  },
  "type": "amino-acid"
}