{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826174669",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_001185465.2:p.Ala246Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280392",
          "hgvs": "NM_001198536.2:c.737C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709521"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103333[alleleid]",
        "alleleId": 103333,
        "preferredName": "NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97441",
        "RCV": [
          "RCV000083692",
          "RCV000512979",
          "RCV000855597",
          "RCV001280972",
          "RCV003224140"
        ],
        "variationId": 97441
      }
    ]
  },
  "type": "amino-acid"
}