{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA325774",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 199,
          "referenceAllele": "I",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016243",
      "geneNCBI_id": 85366,
      "geneSymbol": "MYLK2",
      "hgvs": [
        "NP_149109.1:p.Ile199Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325772",
          "hgvs": "NM_033118.4:c.595A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180061"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45315[alleleid]",
        "alleleId": 45315,
        "preferredName": "NM_033118.4(MYLK2):c.595A>G (p.Ile199Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36653",
        "RCV": [
          "RCV000030332",
          "RCV001305490",
          "RCV002225270"
        ],
        "variationId": 36653
      }
    ]
  },
  "type": "amino-acid"
}