{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828080045",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 317,
          "referenceAllele": "L",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "NP_001350076.1:p.Leu317Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA312689",
          "hgvs": "NM_001363147.1:c.951A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA359991483",
          "hgvs": "NM_001363147.1:c.951A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS656753"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200100[alleleid]",
        "alleleId": 200100,
        "preferredName": "NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203806",
        "RCV": [
          "RCV000186003",
          "RCV001271404",
          "RCV000525215",
          "RCV002513958"
        ],
        "variationId": 203806
      }
    ]
  },
  "type": "amino-acid"
}