{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA214076",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 242,
          "referenceAllele": "P",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "NP_000200.1:p.Pro242Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214075",
          "hgvs": "NM_000209.4:c.725C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146758"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45074[alleleid]",
        "alleleId": 45074,
        "preferredName": "NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36411",
        "RCV": [
          "RCV000455258",
          "RCV000840733",
          "RCV001249016",
          "RCV002464002",
          "RCV004549391"
        ],
        "variationId": 36411
      }
    ]
  },
  "type": "amino-acid"
}