{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15759346",
  "communityStandardTitle": [
    "NM_001129998.3(CLEC12B):c.681-769G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.10170161G>T?assembly=hg19",
        "id": "chr12:g.10170161G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.10017562G>T?assembly=hg38",
        "id": "chr12:g.10017562G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1054611",
        "rs": 1054611
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-10170161-G-T?dataset=gnomad_r2_1",
        "id": "12-10170161-G-T",
        "variant": "12:10170161 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-10017562-G-T?dataset=gnomad_r3",
        "id": "12-10017562-G-T",
        "variant": "12:10017562 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-10017562-G-T?dataset=gnomad_r4",
        "id": "12-10017562-G-T",
        "variant": "12:10017562 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 10017562,
          "referenceAllele": "G",
          "start": 10017561
        }
      ],
      "hgvs": [
        "NC_000012.12:g.10017562G>T",
        "CM000674.2:g.10017562G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 10170161,
          "referenceAllele": "G",
          "start": 10170160
        }
      ],
      "hgvs": [
        "NC_000012.11:g.10170161G>T",
        "CM000674.1:g.10170161G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 10061428,
          "referenceAllele": "G",
          "start": 10061427
        }
      ],
      "hgvs": [
        "NC_000012.10:g.10061428G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "ENST00000338896.11:c.681-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344563.5:n.681-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338896.11:c.681-769G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001129998.3:c.681-769G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344563.5:n.681-769G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001123470.1:n.681-769G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "ENST00000338896.10:c.681-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344563.5:n.681-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "ENST00000338896.9:c.681-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344563.5:n.681-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2643,
          "referenceAllele": "G",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "ENST00000396502.5:c.*1816G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379759.1:n.*1816G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2508,
          "referenceAllele": "G",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "ENST00000539155.1:c.*2309G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444909.1:n.*2309G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 960,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "ENST00000544853.5:c.*129-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439561.1:n.*129-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "NM_001129998.1:c.681-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123470.1:n.681-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2643,
          "referenceAllele": "G",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "NM_205852.2:c.*1816G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_995324.2:n.*1816G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "endIntronDirection": "-",
          "endIntronOffset": 1788,
          "referenceAllele": "C",
          "start": 248,
          "startIntronDirection": "-",
          "startIntronOffset": 1789
        }
      ],
      "hgvs": [
        "NR_120484.1:n.249-1789C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 855,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_006719070.2:c.681-856G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719133.1:n.681-856G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 829,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_006719071.2:c.*3-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719134.1:n.*3-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_006719072.1:c.*589G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719135.1:n.*589G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 781,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_011520658.1:c.654-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518960.1:n.654-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1395,
          "referenceAllele": "G",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_011520659.1:c.*565G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518961.1:n.*565G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2635,
          "referenceAllele": "G",
          "start": 2634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_011520660.1:c.*560G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518962.1:n.*560G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2068,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 2068,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_011520661.1:c.*10-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518963.1:n.*10-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "G",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_011520662.1:c.*596G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518964.1:n.*596G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 2041,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_011520663.1:c.526-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518965.1:n.526-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "endIntronDirection": "-",
          "endIntronOffset": 855,
          "referenceAllele": "G",
          "start": 2047,
          "startIntronDirection": "-",
          "startIntronOffset": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_011520664.1:c.526-856G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518966.1:n.526-856G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 955,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 955,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XR_242889.3:n.956-769G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XR_931290.1:n.1542G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "NM_001129998.2:c.681-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123470.1:n.681-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 805,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 805,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "NM_001319241.1:c.372-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306170.1:n.372-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2640,
          "referenceAllele": "G",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "NM_001319242.1:c.*1816G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306171.1:n.*1816G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2648,
          "referenceAllele": "G",
          "start": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "NM_205852.3:c.*1816G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_995324.2:n.*1816G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS527027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 960,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "NR_135049.1:n.961-769G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_011520658.2:c.654-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518960.1:n.654-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 749,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_011520663.2:c.526-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518965.1:n.526-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 885,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_017019295.1:c.372-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874784.1:n.372-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 855,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_024448976.1:c.681-856G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304744.1:n.681-856G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2584,
          "referenceAllele": "G",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "XM_024448977.1:c.*1823G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304745.1:n.*1823G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 105,
          "endIntronDirection": "-",
          "endIntronOffset": 1413,
          "referenceAllele": "C",
          "start": 105,
          "startIntronDirection": "-",
          "startIntronOffset": 1414
        }
      ],
      "hgvs": [
        "XR_002957401.1:n.106-1414C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "NM_001129998.3:c.681-769G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123470.1:n.681-769G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712298",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338896.11:c.681-769G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001129998.3:c.681-769G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344563.5:n.681-769G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001123470.1:n.681-769G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 855,
          "referenceAllele": "G",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031966",
      "geneNCBI_id": 387837,
      "geneSymbol": "CLEC12B",
      "hgvs": [
        "NM_001387138.1:c.681-856G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001374067.1:n.681-856G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 257,
          "endIntronDirection": "-",
          "endIntronOffset": 1413,
          "referenceAllele": "C",
          "start": 257,
          "startIntronDirection": "-",
          "startIntronOffset": 1414
        }
      ],
      "hgvs": [
        "NR_169587.1:n.258-1414C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732239"
    }
  ],
  "type": "nucleotide"
}