{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA335262",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 402,
          "referenceAllele": "V",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016243",
      "geneNCBI_id": 85366,
      "geneSymbol": "MYLK2",
      "hgvs": [
        "NP_149109.1:p.Val402Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA335260",
          "hgvs": "NM_033118.4:c.1204G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180061"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198524[alleleid]",
        "alleleId": 198524,
        "preferredName": "NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201866",
        "RCV": [
          "RCV000183563",
          "RCV000459516",
          "RCV003156230"
        ],
        "variationId": 201866
      }
    ]
  },
  "type": "amino-acid"
}