{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253039",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 157,
          "referenceAllele": "T",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NP_061845.2:p.Thr157Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253038",
          "hgvs": "NM_018972.4:c.469A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176511"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19238[alleleid]",
        "alleleId": 19238,
        "preferredName": "NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4199",
        "RCV": [
          "RCV000004419",
          "RCV001533514",
          "RCV000798174"
        ],
        "variationId": 4199
      }
    ]
  },
  "type": "amino-acid"
}