{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827194327",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 242,
          "referenceAllele": "H",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NP_001310473.1:p.His242Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221061",
          "hgvs": "NM_001323544.2:c.725A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573152753",
          "hgvs": "NM_001323544.2:c.725_726delinsGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625229"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99092[alleleid]",
        "alleleId": 99092,
        "preferredName": "NM_000512.5(GALNS):c.707A>G (p.His236Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1493275[alleleid]",
        "alleleId": 1493275,
        "preferredName": "NM_000512.5(GALNS):c.707_708inv (p.His236Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93185",
        "RCV": [
          "RCV000079043",
          "RCV001731366",
          "RCV001578306"
        ],
        "variationId": 93185
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1406013",
        "RCV": [
          "RCV001906790"
        ],
        "variationId": 1406013
      }
    ]
  },
  "type": "amino-acid"
}