{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827344362",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 413,
          "referenceAllele": "M",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "NP_001317652.1:p.Met413Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1093613",
          "hgvs": "NM_001330723.2:c.1237A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA341969782",
          "hgvs": "NM_001330723.2:c.1237A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617703"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=718213[alleleid]",
        "alleleId": 718213,
        "preferredName": "NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/708088",
        "RCV": [
          "RCV000879283",
          "RCV002536812"
        ],
        "variationId": 708088
      }
    ]
  },
  "type": "amino-acid"
}