{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826174767",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 438,
          "referenceAllele": "D",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_001185465.2:p.Asp438Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7859932",
          "hgvs": "NM_001198536.2:c.1312G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709521"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=656372[alleleid]",
        "alleleId": 656372,
        "preferredName": "NM_000243.3(MEFV):c.1770G>A (p.Leu590=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/669769",
        "RCV": [
          "RCV000828867",
          "RCV001471489",
          "RCV003127484",
          "RCV003127483"
        ],
        "variationId": 669769
      }
    ]
  },
  "type": "amino-acid"
}