{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107920",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 332,
          "referenceAllele": "Q",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "NP_006149.2:p.Gln332Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA217588",
          "hgvs": "NM_006158.5:c.995A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171722"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29067[alleleid]",
        "alleleId": 29067,
        "preferredName": "NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14028",
        "RCV": [
          "RCV000015072",
          "RCV000057151"
        ],
        "variationId": 14028
      }
    ]
  },
  "type": "amino-acid"
}