{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA134232",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 418,
          "referenceAllele": "V",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "NP_002462.2:p.Val418Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA134230",
          "hgvs": "NM_002471.4:c.1252G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168320"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53616[alleleid]",
        "alleleId": 53616,
        "preferredName": "NM_002471.4(MYH6):c.1252G>A (p.Val418Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44449",
        "RCV": [
          "RCV000037439",
          "RCV000172033",
          "RCV000254507",
          "RCV000852697",
          "RCV001088230"
        ],
        "variationId": 44449
      }
    ]
  },
  "type": "amino-acid"
}