{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573181389",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46,
          "referenceAllele": "Y",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NP_001120973.2:p.Tyr46Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338877056",
          "hgvs": "NM_001127501.4:c.137A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152105"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671728[alleleid]",
        "alleleId": 1671728,
        "preferredName": "NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679809",
        "RCV": [
          "RCV002227833",
          "RCV003679078"
        ],
        "variationId": 1679809
      }
    ]
  },
  "type": "amino-acid"
}