{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099955",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 124,
          "referenceAllele": "F",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018362",
      "geneNCBI_id": 50939,
      "geneSymbol": "IMPG2",
      "hgvs": [
        "NP_057331.2:p.Phe124Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116343",
          "hgvs": "NM_016247.4:c.370T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA353851939",
          "hgvs": "NM_016247.4:c.372T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA353851940",
          "hgvs": "NM_016247.4:c.372T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175088"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18589[alleleid]",
        "alleleId": 18589,
        "preferredName": "NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3550",
        "RCV": [
          "RCV000003728",
          "RCV001003057",
          "RCV001053107"
        ],
        "variationId": 3550
      }
    ]
  },
  "type": "amino-acid"
}