{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8817933",
  "communityStandardTitle": [
    "NM_000199.5(SGSH):c.617G>A (p.Arg206His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1862456[alleleid]",
        "alleleId": 1862456,
        "preferredName": "NM_000199.5(SGSH):c.617G>A (p.Arg206His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1805444",
        "RCV": [
          "RCV002471862"
        ],
        "variationId": 1805444
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78188017-C-T",
        "id": "17-78188017-C-T",
        "variant": "17:78188017 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78188017C>T?assembly=hg19",
        "id": "chr17:g.78188017C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80214218C>T?assembly=hg38",
        "id": "chr17:g.80214218C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894643",
        "rs": 104894643
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78188017-C-T?dataset=gnomad_r2_1",
        "id": "17-78188017-C-T",
        "variant": "17:78188017 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80214218-C-T?dataset=gnomad_r3",
        "id": "17-80214218-C-T",
        "variant": "17:80214218 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80214218-C-T?dataset=gnomad_r4",
        "id": "17-80214218-C-T",
        "variant": "17:80214218 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 80214218,
          "referenceAllele": "C",
          "start": 80214217
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80214218C>T",
        "CM000679.2:g.80214218C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78188017,
          "referenceAllele": "C",
          "start": 78188016
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78188017C>T",
        "CM000679.1:g.78188017C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75802612,
          "referenceAllele": "C",
          "start": 75802611
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75802612C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11183,
          "referenceAllele": "G",
          "start": 11182
        }
      ],
      "hgvs": [
        "NG_008229.1:g.11183G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000961"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2844,
          "endIntronDirection": "-",
          "endIntronOffset": 1647,
          "referenceAllele": "C",
          "start": 2844,
          "startIntronDirection": "-",
          "startIntronOffset": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016446",
      "geneNCBI_id": 79092,
      "geneSymbol": "CARD14",
      "hgvs": [
        "ENST00000703570.1:n.2845-1648C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000326317.11:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314606.6:p.Arg206His",
        "hgvsWellDefined": "ENSP00000314606.6:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326317.11:c.617G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000199.5:c.617G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314606.6:p.Arg206His"
          },
          "RefSeq": {
            "hgvs": "NP_000190.1:p.Arg206His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000326317.10:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314606.6:p.Arg206His",
        "hgvsWellDefined": "ENSP00000314606.6:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 677,
          "referenceAllele": "G",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000570923.1:c.652G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458200.1:p.Val218Ile",
        "hgvsWellDefined": "ENSP00000458200.1:p.Val218Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000571051.5:n.486G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000572208.5:n.484G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000572257.5:c.219G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000573150.5:c.511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459280.1:p.Val171Ile",
        "hgvsWellDefined": "ENSP00000459280.1:p.Val171Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000574505.5:c.476G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000575282.5:n.626G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000576941.5:c.*33G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461160.1:n.*33G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080680",
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_000199.3:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000190.1:p.Arg206His",
        "hgvsWellDefined": "NP_000190.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XM_005257582.2:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257639.1:p.Arg206His",
        "hgvsWellDefined": "XP_005257639.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XM_005257583.3:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257640.1:p.Arg206His",
        "hgvsWellDefined": "XP_005257640.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XM_011525126.1:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523428.1:p.Arg206His",
        "hgvsWellDefined": "XP_011523428.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XM_011525127.1:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523429.1:p.Arg206His",
        "hgvsWellDefined": "XP_011523429.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_934532.1:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080680",
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_000199.4:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000190.1:p.Arg206His",
        "hgvsWellDefined": "NP_000190.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827690144",
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_001352921.1:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339850.1:p.Arg206His",
        "hgvsWellDefined": "NP_001339850.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580210295",
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_001352922.1:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339851.1:p.Arg206His",
        "hgvsWellDefined": "NP_001339851.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NR_148201.1:n.598G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XM_005257583.4:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257640.1:p.Arg206His",
        "hgvsWellDefined": "XP_005257640.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XM_017024952.1:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880441.1:p.Arg206His",
        "hgvsWellDefined": "XP_016880441.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752585.1:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752586.1:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752587.1:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752588.1:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752589.1:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752590.1:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752591.1:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752592.1:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_002958057.1:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_934532.2:n.637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825080680",
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_000199.5:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000190.1:p.Arg206His",
        "hgvsWellDefined": "NP_000190.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326317.11:c.617G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000199.5:c.617G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314606.6:p.Arg206His"
          },
          "RefSeq": {
            "hgvs": "NP_000190.1:p.Arg206His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827690144",
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_001352921.2:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339850.1:p.Arg206His",
        "hgvsWellDefined": "NP_001339850.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580210295",
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_001352922.2:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339851.1:p.Arg206His",
        "hgvsWellDefined": "NP_001339851.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NR_148201.2:n.531G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827690144",
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_001352921.3:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339850.1:p.Arg206His",
        "hgvsWellDefined": "NP_001339850.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720201"
    }
  ],
  "type": "nucleotide"
}