{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830323162",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 72,
          "referenceAllele": "S",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009118",
      "geneNCBI_id": 5376,
      "geneSymbol": "PMP22",
      "hgvs": [
        "NP_696996.1:p.Ser72Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119620",
          "hgvs": "NM_153321.3:c.215C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182851"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23472[alleleid]",
        "alleleId": 23472,
        "preferredName": "NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8433",
        "RCV": [
          "RCV000008948",
          "RCV000489163",
          "RCV000456500",
          "RCV000622525",
          "RCV001729342"
        ],
        "variationId": 8433
      }
    ]
  },
  "type": "amino-acid"
}