{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099695",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 13,
          "referenceAllele": "S",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009006",
      "geneNCBI_id": 5309,
      "geneSymbol": "PITX3",
      "hgvs": [
        "NP_005020.1:p.Ser13Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118564",
          "hgvs": "NM_005029.4:c.38G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170697"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21977[alleleid]",
        "alleleId": 21977,
        "preferredName": "NM_005029.4(PITX3):c.38G>A (p.Ser13Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6938",
        "RCV": [
          "RCV000007351"
        ],
        "variationId": 6938
      }
    ]
  },
  "type": "amino-acid"
}