{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA342169",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NP_055461.1:p.Ala331Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342167",
          "hgvs": "NM_014646.2:c.991G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173873"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34372[alleleid]",
        "alleleId": 34372,
        "preferredName": "NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21520",
        "RCV": [
          "RCV000020710",
          "RCV000755296",
          "RCV002262570",
          "RCV003982845"
        ],
        "variationId": 21520
      }
    ]
  },
  "type": "amino-acid"
}