{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA217572",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 22,
          "referenceAllele": "P",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "NP_006149.2:p.Pro22Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA217570",
          "hgvs": "NM_006158.5:c.65C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171722"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49663[alleleid]",
        "alleleId": 49663,
        "preferredName": "NM_006158.5(NEFL):c.65C>G (p.Pro22Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41239",
        "RCV": [
          "RCV000034139",
          "RCV000057145"
        ],
        "variationId": 41239
      }
    ]
  },
  "type": "amino-acid"
}