{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827627670",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1289,
          "referenceAllele": "S",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NP_001338729.1:p.Ser1289Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7925255",
          "hgvs": "NM_001351800.1:c.3867C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394884106",
          "hgvs": "NM_001351800.1:c.3867C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394884322",
          "hgvs": "NM_001351800.1:c.3865A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636141"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426802[alleleid]",
        "alleleId": 426802,
        "preferredName": "NM_001171.6(ABCC6):c.4209C>A (p.Ser1403Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2181956[alleleid]",
        "alleleId": 2181956,
        "preferredName": "NM_001171.6(ABCC6):c.4209C>G (p.Ser1403Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433354",
        "RCV": [
          "RCV000499150"
        ],
        "variationId": 433354
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2126656",
        "RCV": [
          "RCV003051770"
        ],
        "variationId": 2126656
      }
    ]
  },
  "type": "amino-acid"
}