{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645403607",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 111,
          "referenceAllele": "P",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NP_004729.1:p.Pro111Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9924233",
          "hgvs": "NM_004738.5:c.332C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170427"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=350187[alleleid]",
        "alleleId": 350187,
        "preferredName": "NM_004738.5(VAPB):c.332C>T (p.Pro111Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/338930",
        "RCV": [
          "RCV000312731",
          "RCV000348929",
          "RCV002254546",
          "RCV002323548"
        ],
        "variationId": 338930
      }
    ]
  },
  "type": "amino-acid"
}