{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102978",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "referenceAllele": "P",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NP_000262.2:p.Pro1007Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340032",
          "hgvs": "NM_000271.5:c.3019C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146818"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18005[alleleid]",
        "alleleId": 18005,
        "preferredName": "NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2966",
        "RCV": [
          "RCV000003100",
          "RCV000254671",
          "RCV000321958",
          "RCV000415371",
          "RCV002512691",
          "RCV003952339"
        ],
        "variationId": 2966
      }
    ]
  },
  "type": "amino-acid"
}