{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741813953",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 948,
          "referenceAllele": "D",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NP_000262.2:p.Asp948Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401792508",
          "hgvs": "NM_000271.5:c.2844C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401792509",
          "hgvs": "NM_000271.5:c.2844C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146818"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3137261[alleleid]",
        "alleleId": 3137261,
        "preferredName": "NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2976074",
        "RCV": [
          "RCV003836224"
        ],
        "variationId": 2976074
      }
    ]
  },
  "type": "amino-acid"
}