{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA114458",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 484,
          "referenceAllele": "M",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020820",
      "geneNCBI_id": 219931,
      "geneSymbol": "TPCN2",
      "hgvs": [
        "NP_620714.2:p.Met484Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114457",
          "hgvs": "NM_139075.4:c.1450A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA6155275",
          "hgvs": "NM_139075.4:c.1450A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181498"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15766[alleleid]",
        "alleleId": 15766,
        "preferredName": "NM_139075.4(TPCN2):c.1450A>T (p.Met484Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/727",
        "RCV": [
          "RCV000000763"
        ],
        "variationId": 727
      }
    ]
  },
  "type": "amino-acid"
}