{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825403526",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 137,
          "referenceAllele": "L",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NP_001035931.1:p.Leu137Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5547774",
          "hgvs": "NM_001042466.3:c.409C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150176"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407907[alleleid]",
        "alleleId": 407907,
        "preferredName": "NM_002778.4(PSAP):c.409C>G (p.Leu137Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418428",
        "RCV": [
          "RCV000484673",
          "RCV001084808",
          "RCV001335064",
          "RCV001272680",
          "RCV003902722"
        ],
        "variationId": 418428
      }
    ]
  },
  "type": "amino-acid"
}