{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830149375",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1076,
          "referenceAllele": "V",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NP_476508.2:p.Val1076Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2189061",
          "hgvs": "NM_057167.4:c.3226G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180580"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260862[alleleid]",
        "alleleId": 260862,
        "preferredName": "NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/266039",
        "RCV": [
          "RCV000256486",
          "RCV000291174",
          "RCV000498501"
        ],
        "variationId": 266039
      }
    ]
  },
  "type": "amino-acid"
}