{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116322",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "referenceAllele": "E",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NP_005948.3:p.Glu429Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116320",
          "hgvs": "NM_005957.5:c.1286A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171543"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18560[alleleid]",
        "alleleId": 18560,
        "preferredName": "NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3521",
        "RCV": [
          "RCV000003699",
          "RCV000003698",
          "RCV000153515",
          "RCV000144922",
          "RCV000350590",
          "RCV000430863",
          "RCV001197542",
          "RCV003974792"
        ],
        "variationId": 3521
      }
    ]
  },
  "type": "amino-acid"
}