{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645389434",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 4123,
          "referenceAllele": "H",
          "start": 4122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.His4123Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3201662",
          "hgvs": "NM_001369.3:c.12367C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=251680[alleleid]",
        "alleleId": 251680,
        "preferredName": "NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/257996",
        "RCV": [
          "RCV000253565",
          "RCV000361695",
          "RCV001094958"
        ],
        "variationId": 257996
      }
    ]
  },
  "type": "amino-acid"
}