{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645389087",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 3432,
          "referenceAllele": "V",
          "start": 3431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Val3432Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3202282",
          "hgvs": "NM_001369.3:c.10294G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA359195979",
          "hgvs": "NM_001369.3:c.10294G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229249[alleleid]",
        "alleleId": 229249,
        "preferredName": "NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/227321",
        "RCV": [
          "RCV000218494",
          "RCV000457798",
          "RCV001153065"
        ],
        "variationId": 227321
      }
    ]
  },
  "type": "amino-acid"
}