{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093521",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 479,
          "referenceAllele": "F",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_000234.1:p.Phe479Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280103",
          "hgvs": "NM_000243.3:c.1437C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA7860129",
          "hgvs": "NM_000243.3:c.1437C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394464447",
          "hgvs": "NM_000243.3:c.1435T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA658760339",
          "hgvs": "NM_000243.3:c.[1437C>G;501G>C]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17584[alleleid]",
        "alleleId": 17584,
        "preferredName": "NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1937057[alleleid]",
        "alleleId": 1937057,
        "preferredName": "NM_000243.3(MEFV):c.1437C>A (p.Phe479Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2545",
        "RCV": [
          "RCV000002654",
          "RCV000508324",
          "RCV002262545",
          "RCV003230343",
          "RCV003466786"
        ],
        "variationId": 2545
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2414425",
        "RCV": [
          "RCV003106758"
        ],
        "variationId": 2414425
      }
    ]
  },
  "type": "amino-acid"
}