{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915966947",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "A",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NP_001120973.2:p.Ala61Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123348",
          "hgvs": "NM_001127501.4:c.181G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152105"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28716[alleleid]",
        "alleleId": 28716,
        "preferredName": "NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13677",
        "RCV": [
          "RCV000014668",
          "RCV000014669",
          "RCV000014670",
          "RCV000169426",
          "RCV000224118",
          "RCV000590781",
          "RCV004549367"
        ],
        "variationId": 13677
      }
    ]
  },
  "type": "amino-acid"
}