{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827328637",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 12,
          "referenceAllele": "H",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NP_001317072.1:p.His12Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119622",
          "hgvs": "NM_001330143.2:c.36C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA398271729",
          "hgvs": "NM_001330143.2:c.36C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657375"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23473[alleleid]",
        "alleleId": 23473,
        "preferredName": "NM_000304.4(PMP22):c.36C>A (p.His12Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2096029[alleleid]",
        "alleleId": 2096029,
        "preferredName": "NM_000304.4(PMP22):c.36C>G (p.His12Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8434",
        "RCV": [
          "RCV000008949",
          "RCV000168060",
          "RCV000622783",
          "RCV000790177",
          "RCV001195890"
        ],
        "variationId": 8434
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2044604",
        "RCV": [
          "RCV002900303"
        ],
        "variationId": 2044604
      }
    ]
  },
  "type": "amino-acid"
}