{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825571272",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 394,
          "referenceAllele": "V",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NP_001107803.1:p.Val394Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344953",
          "hgvs": "NM_001114331.3:c.1180G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151791"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76542[alleleid]",
        "alleleId": 76542,
        "preferredName": "NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65634",
        "RCV": [
          "RCV000055845",
          "RCV000251178",
          "RCV000338192",
          "RCV001516365",
          "RCV002277138"
        ],
        "variationId": 65634
      }
    ]
  },
  "type": "amino-acid"
}