{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104987",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 50,
          "referenceAllele": "P",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "NP_000400.2:p.Pro50Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120149",
          "hgvs": "NM_000409.5:c.149C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146952"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24190[alleleid]",
        "alleleId": 24190,
        "preferredName": "NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9151",
        "RCV": [
          "RCV000009722",
          "RCV000444625",
          "RCV000787609",
          "RCV000787610"
        ],
        "variationId": 9151
      }
    ]
  },
  "type": "amino-acid"
}