{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573069566",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 359,
          "referenceAllele": "N",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NP_001278.1:p.Asn359Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394189712",
          "hgvs": "NM_001287.6:c.1077C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394189713",
          "hgvs": "NM_001287.6:c.1077C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1325375[alleleid]",
        "alleleId": 1325375,
        "preferredName": "NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3520321[alleleid]",
        "alleleId": 3520321,
        "preferredName": "NM_001287.6(CLCN7):c.1077C>G (p.Asn359Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1334479",
        "RCV": [
          "RCV001814660"
        ],
        "variationId": 1334479
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3361110",
        "RCV": [
          "RCV004760142"
        ],
        "variationId": 3361110
      }
    ]
  },
  "type": "amino-acid"
}