{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA121192",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 312,
          "referenceAllele": "P",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003663",
      "geneNCBI_id": 2245,
      "geneSymbol": "FGD1",
      "hgvs": [
        "NP_004454.2:p.Pro312Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121191",
          "hgvs": "NM_004463.3:c.935C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170166"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25867[alleleid]",
        "alleleId": 25867,
        "preferredName": "NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10828",
        "RCV": [
          "RCV000224897",
          "RCV000604954",
          "RCV001252498",
          "RCV002316189",
          "RCV003904828"
        ],
        "variationId": 10828
      }
    ]
  },
  "type": "amino-acid"
}