{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826174693",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 290,
          "referenceAllele": "R",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_001185465.2:p.Arg290His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280412",
          "hgvs": "NM_001198536.2:c.869G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2697549665",
          "hgvs": "NM_001198536.2:c.869_870delinsAT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709521"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103340[alleleid]",
        "alleleId": 103340,
        "preferredName": "NM_000243.3(MEFV):c.1502G>A (p.Arg501His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2861464[alleleid]",
        "alleleId": 2861464,
        "preferredName": "NM_000243.3(MEFV):c.1502_1503delinsAT (p.Arg501His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97448",
        "RCV": [
          "RCV000083700",
          "RCV001192542",
          "RCV002262633"
        ],
        "variationId": 97448
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2697902",
        "RCV": [
          "RCV003498154"
        ],
        "variationId": 2697902
      }
    ]
  },
  "type": "amino-acid"
}