{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658819268",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 172,
          "referenceAllele": "P",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NP_061838.1:p.Pro172Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3798846",
          "hgvs": "NM_018965.4:c.514C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176505"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=512906[alleleid]",
        "alleleId": 512906,
        "preferredName": "NM_018965.4(TREM2):c.514C>T (p.Pro172Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522336",
        "RCV": [
          "RCV000625432",
          "RCV001860459",
          "RCV003905673"
        ],
        "variationId": 522336
      }
    ]
  },
  "type": "amino-acid"
}