{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA280649",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 242,
          "referenceAllele": "S",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_000234.1:p.Ser242Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280647",
          "hgvs": "NM_000243.3:c.726C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA280650",
          "hgvs": "NM_000243.3:c.726C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394478123",
          "hgvs": "NM_000243.3:c.724A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103432[alleleid]",
        "alleleId": 103432,
        "preferredName": "NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103433[alleleid]",
        "alleleId": 103433,
        "preferredName": "NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97540",
        "RCV": [
          "RCV000083792",
          "RCV001804836",
          "RCV004542801"
        ],
        "variationId": 97540
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97541",
        "RCV": [
          "RCV000083793",
          "RCV001172095",
          "RCV001174523"
        ],
        "variationId": 97541
      }
    ]
  },
  "type": "amino-acid"
}