{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827183815",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 50,
          "referenceAllele": "V",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009141",
      "geneNCBI_id": 10654,
      "geneSymbol": "PMVK",
      "hgvs": [
        "NP_001309941.1:p.Val50Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1132498",
          "hgvs": "NM_001323012.3:c.148G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS646094"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1168777[alleleid]",
        "alleleId": 1168777,
        "preferredName": "NM_006556.4(PMVK):c.373G>A (p.Val125Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1180221",
        "RCV": [
          "RCV001537383"
        ],
        "variationId": 1180221
      }
    ]
  },
  "type": "amino-acid"
}