{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829382354",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 391,
          "referenceAllele": "T",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NP_002769.1:p.Thr391Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5547470",
          "hgvs": "NM_002778.4:c.1172C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168609"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=310768[alleleid]",
        "alleleId": 310768,
        "preferredName": "NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/300514",
        "RCV": [
          "RCV000349589",
          "RCV000350842",
          "RCV000389048",
          "RCV001044241",
          "RCV001833438",
          "RCV002262951",
          "RCV002520627"
        ],
        "variationId": 300514
      }
    ]
  },
  "type": "amino-acid"
}