{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA267512",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 387,
          "referenceAllele": "K",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NP_055461.1:p.Lys387Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA267510",
          "hgvs": "NM_014646.2:c.1159A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173873"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103705[alleleid]",
        "alleleId": 103705,
        "preferredName": "NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97813",
        "RCV": [
          "RCV000084066",
          "RCV000220059",
          "RCV001258259",
          "RCV003421983",
          "RCV002262673"
        ],
        "variationId": 97813
      }
    ]
  },
  "type": "amino-acid"
}