{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA342986",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 170,
          "referenceAllele": "S",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NP_002428.1:p.Ser170Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342985",
          "hgvs": "NM_002437.5:c.509C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46921[alleleid]",
        "alleleId": 46921,
        "preferredName": "NM_002437.5(MPV17):c.509C>T (p.Ser170Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38358",
        "RCV": [
          "RCV000031914",
          "RCV003556092"
        ],
        "variationId": 38358
      }
    ]
  },
  "type": "amino-acid"
}