{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826478919",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 347,
          "referenceAllele": "L",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007208",
      "geneNCBI_id": 8777,
      "geneSymbol": "MPDZ",
      "hgvs": [
        "NP_001248335.1:p.Leu347Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA205061",
          "hgvs": "NM_001261406.2:c.1041G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA372945553",
          "hgvs": "NM_001261406.2:c.1041G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160413"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207646[alleleid]",
        "alleleId": 207646,
        "preferredName": "NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/211506",
        "RCV": [
          "RCV000192318",
          "RCV000514767",
          "RCV001336608"
        ],
        "variationId": 211506
      }
    ]
  },
  "type": "amino-acid"
}