{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA330623",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 251,
          "referenceAllele": "I",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NP_000170.1:p.Ile251Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016421",
          "hgvs": "NM_000179.3:c.751A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95038[alleleid]",
        "alleleId": 95038,
        "preferredName": "NM_000179.3(MSH6):c.751A>G (p.Ile251Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89564",
        "RCV": [
          "RCV000215096",
          "RCV000220612",
          "RCV000630227",
          "RCV000662409",
          "RCV003460703",
          "RCV003997102"
        ],
        "variationId": 89564
      }
    ]
  },
  "type": "amino-acid"
}