{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA346488",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1379,
          "referenceAllele": "T",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "NP_002462.2:p.Thr1379Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346486",
          "hgvs": "NM_002471.4:c.4136C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168320"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178667[alleleid]",
        "alleleId": 178667,
        "preferredName": "NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180425",
        "RCV": [
          "RCV000157339",
          "RCV000233729",
          "RCV000216382",
          "RCV000989182",
          "RCV002326893",
          "RCV001171183"
        ],
        "variationId": 180425
      }
    ]
  },
  "type": "amino-acid"
}