{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830138666",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 648,
          "referenceAllele": "D",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007590",
      "geneNCBI_id": 4638,
      "geneSymbol": "MYLK",
      "hgvs": [
        "NP_444254.3:p.Asp648Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA068219",
          "hgvs": "NM_053026.4:c.1942G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180498"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=509534[alleleid]",
        "alleleId": 509534,
        "preferredName": "NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/519975",
        "RCV": [
          "RCV000648721",
          "RCV000735407",
          "RCV000762384",
          "RCV002313418",
          "RCV002491329"
        ],
        "variationId": 519975
      }
    ]
  },
  "type": "amino-acid"
}