{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827332897",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 683,
          "referenceAllele": "S",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NP_001317138.1:p.Ser683Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA240715",
          "hgvs": "NM_001330209.2:c.2048C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191795[alleleid]",
        "alleleId": 191795,
        "preferredName": "NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194632",
        "RCV": [
          "RCV000175046",
          "RCV000701169"
        ],
        "variationId": 194632
      }
    ]
  },
  "type": "amino-acid"
}