{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA182924",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 4134,
          "referenceAllele": "A",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Ala4134Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA182923",
          "hgvs": "NM_001369.3:c.12401C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580072002",
          "hgvs": "NM_001369.3:c.12401_12402delinsTC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=173685[alleleid]",
        "alleleId": 173685,
        "preferredName": "NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2161132[alleleid]",
        "alleleId": 2161132,
        "preferredName": "NM_001369.3(DNAH5):c.12401_12402delinsTC (p.Ala4134Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178743",
        "RCV": [
          "RCV000155503",
          "RCV000265989",
          "RCV001094957",
          "RCV001706044"
        ],
        "variationId": 178743
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2113597",
        "RCV": [
          "RCV003029625"
        ],
        "variationId": 2113597
      }
    ]
  },
  "type": "amino-acid"
}