{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825188450",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 148,
          "referenceAllele": "H",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009086",
      "geneNCBI_id": 5354,
      "geneSymbol": "PLP1",
      "hgvs": [
        "NP_000524.3:p.His148Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA414102951",
          "hgvs": "NM_000533.5:c.442C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147068"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1336169[alleleid]",
        "alleleId": 1336169,
        "preferredName": "NM_000533.5(PLP1):c.442C>T (p.His148Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1344466",
        "RCV": [
          "RCV001848569",
          "RCV002286852",
          "RCV002545276"
        ],
        "variationId": 1344466
      }
    ]
  },
  "type": "amino-acid"
}