{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA217564",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 213,
          "referenceAllele": "I",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007739",
      "geneNCBI_id": 4747,
      "geneSymbol": "NEFL",
      "hgvs": [
        "NP_006149.2:p.Ile213Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA217562",
          "hgvs": "NM_006158.5:c.639C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171722"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77592[alleleid]",
        "alleleId": 77592,
        "preferredName": "NM_006158.5(NEFL):c.639C>G (p.Ile213Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66695",
        "RCV": [
          "RCV000057142",
          "RCV000507003",
          "RCV001081393",
          "RCV001160882",
          "RCV001173051",
          "RCV002362689",
          "RCV003925018"
        ],
        "variationId": 66695
      }
    ]
  },
  "type": "amino-acid"
}