{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825536023",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028018",
      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "NP_001092757.2:p.Ala114Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251939",
          "hgvs": "NM_001099287.2:c.341C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16770[alleleid]",
        "alleleId": 16770,
        "preferredName": "NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1731",
        "RCV": [
          "RCV000001801",
          "RCV000254897",
          "RCV001729333",
          "RCV001844003"
        ],
        "variationId": 1731
      }
    ]
  },
  "type": "amino-acid"
}