{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA239196",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 402,
          "referenceAllele": "N",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Asn402Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA239195",
          "hgvs": "NM_001369.3:c.1206T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3204913",
          "hgvs": "NM_001369.3:c.1206T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186050[alleleid]",
        "alleleId": 186050,
        "preferredName": "NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1877798[alleleid]",
        "alleleId": 1877798,
        "preferredName": "NM_001369.3(DNAH5):c.1206T>G (p.Asn402Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188080",
        "RCV": [
          "RCV000219496",
          "RCV000724138",
          "RCV000665936",
          "RCV001083198"
        ],
        "variationId": 188080
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2136791",
        "RCV": [
          "RCV003058225"
        ],
        "variationId": 2136791
      }
    ]
  },
  "type": "amino-acid"
}