{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645430100",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 264,
          "referenceAllele": "P",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019261",
      "geneNCBI_id": 25821,
      "geneSymbol": "MTO1",
      "hgvs": [
        "NP_598400.1:p.Pro264Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA140957247",
          "hgvs": "NM_133645.3:c.791C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181095"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415062[alleleid]",
        "alleleId": 415062,
        "preferredName": "NM_012123.4(MTO1):c.791C>T (p.Pro264Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426615",
        "RCV": [
          "RCV000489964",
          "RCV001851313",
          "RCV003387857"
        ],
        "variationId": 426615
      }
    ]
  },
  "type": "amino-acid"
}