{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093531",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 743,
          "referenceAllele": "F",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NP_000234.1:p.Phe743Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280550",
          "hgvs": "NM_000243.3:c.2229C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10577516",
          "hgvs": "NM_000243.3:c.2227T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394485100",
          "hgvs": "NM_000243.3:c.2229C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146790"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103395[alleleid]",
        "alleleId": 103395,
        "preferredName": "NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=231931[alleleid]",
        "alleleId": 231931,
        "preferredName": "NM_000243.3(MEFV):c.2227T>C (p.Phe743Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97503",
        "RCV": [
          "RCV000083755",
          "RCV002483162",
          "RCV003126458",
          "RCV003126457",
          "RCV003133133"
        ],
        "variationId": 97503
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/234449",
        "RCV": [
          "RCV000214222",
          "RCV001833229"
        ],
        "variationId": 234449
      }
    ]
  },
  "type": "amino-acid"
}