{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139683462",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "E",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NP_001035930.1:p.Glu362Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5547486",
          "hgvs": "NM_001042465.3:c.1085A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150175"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=978787[alleleid]",
        "alleleId": 978787,
        "preferredName": "NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/991967",
        "RCV": [
          "RCV001280271",
          "RCV001449850",
          "RCV002541741"
        ],
        "variationId": 991967
      }
    ]
  },
  "type": "amino-acid"
}