{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916027997",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 266,
          "referenceAllele": "I",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NP_001317287.1:p.Ile266Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA595581",
          "hgvs": "NM_001330358.2:c.796A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622907"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=276706[alleleid]",
        "alleleId": 276706,
        "preferredName": "NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1369489",
        "RCV": [
          "RCV001894913",
          "RCV002468946",
          "RCV002506924"
        ],
        "variationId": 1369489
      }
    ]
  },
  "type": "amino-acid"
}