{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645481406",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "referenceAllele": "A",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NP_001107657.1:p.Ala148Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA149834",
          "hgvs": "NM_001114185.3:c.442G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151789"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103484[alleleid]",
        "alleleId": 103484,
        "preferredName": "NM_000431.4(MVK):c.442G>A (p.Ala148Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97592",
        "RCV": [
          "RCV000083844",
          "RCV000214102",
          "RCV001854464"
        ],
        "variationId": 97592
      }
    ]
  },
  "type": "amino-acid"
}