{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916027994",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 263,
          "referenceAllele": "A",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NP_001317287.1:p.Ala263Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA170990",
          "hgvs": "NM_001330358.2:c.788C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580060904",
          "hgvs": "NM_001330358.2:c.788_789delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622907"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18559[alleleid]",
        "alleleId": 18559,
        "preferredName": "NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1932528[alleleid]",
        "alleleId": 1932528,
        "preferredName": "NM_005957.5(MTHFR):c.665_666delinsTT (p.Ala222Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3520",
        "RCV": [
          "RCV000003697",
          "RCV000144921",
          "RCV000153516",
          "RCV000259890",
          "RCV000427078",
          "RCV000428048",
          "RCV000761447",
          "RCV001030751",
          "RCV001847567",
          "RCV002227012"
        ],
        "variationId": 3520
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2194685",
        "RCV": [
          "RCV002647482"
        ],
        "variationId": 2194685
      }
    ]
  },
  "type": "amino-acid"
}