{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107375",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 167,
          "referenceAllele": "P",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NP_000422.1:p.Pro167Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130488",
          "hgvs": "NM_000431.4:c.500C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA645587880",
          "hgvs": "NM_000431.4:c.499_500delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146974"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48324[alleleid]",
        "alleleId": 48324,
        "preferredName": "NM_000431.4(MVK):c.500C>T (p.Pro167Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39725",
        "RCV": [
          "RCV000032937",
          "RCV000445120",
          "RCV003764651"
        ],
        "variationId": 39725
      }
    ]
  },
  "type": "amino-acid"
}