{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829180030",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1260,
          "referenceAllele": "T",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "NP_001375421.1:p.Thr1260Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2824227",
          "hgvs": "NM_001388492.1:c.3779C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735543"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404644[alleleid]",
        "alleleId": 404644,
        "preferredName": "NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/417743",
        "RCV": [
          "RCV000477735",
          "RCV001662450",
          "RCV001777163"
        ],
        "variationId": 417743
      }
    ]
  },
  "type": "amino-acid"
}