{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1616542324",
  "communityStandardTitle": [
    "NM_014809.4(KIAA0319):c.931G= (p.Ala311=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4504469",
        "rs": 4504469
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24588656,
          "referenceAllele": "C",
          "start": 24588655
        }
      ],
      "hgvs": [
        "NC_000006.12:g.24588656C=",
        "CM000668.2:g.24588656C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24588884,
          "referenceAllele": "C",
          "start": 24588883
        }
      ],
      "hgvs": [
        "NC_000006.11:g.24588884C=",
        "CM000668.1:g.24588884C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24696863,
          "referenceAllele": "C",
          "start": 24696862
        }
      ],
      "hgvs": [
        "NC_000006.10:g.24696863C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62500,
          "referenceAllele": "G",
          "start": 62499
        }
      ],
      "hgvs": [
        "NG_016206.1:g.62500G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "ENST00000378214.8:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367459.3:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378214.8:c.931G="
          },
          "RefSeq": {
            "hgvs": "NM_014809.4:c.931G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367459.3:p.Ala311="
          },
          "RefSeq": {
            "hgvs": "NP_055624.2:p.Ala311="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "ENST00000378214.7:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367459.3:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "ENST00000430948.6:c.796G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401086.2:p.Ala266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "G",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "ENST00000535378.5:c.904G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442403.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "ENST00000537886.5:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439700.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "ENST00000543707.2:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437656.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "G",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001168374.1:c.904G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001161846.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1431,
          "referenceAllele": "G",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001168375.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001161847.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001168376.1:c.796G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001161848.1:p.Ala266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001168377.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001161849.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072129410",
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_014809.3:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055624.2:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_006715288.2:c.475G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715351.1:p.Ala159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_011515022.1:c.949G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513324.1:p.Ala317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_011515023.1:c.949G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513325.1:p.Ala317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_011515024.1:c.949G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513326.1:p.Ala317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_011515025.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513327.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_011515026.1:c.796G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513328.1:p.Ala266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350403.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337332.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350404.1:c.913G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337333.1:p.Ala305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1431,
          "referenceAllele": "G",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350405.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337334.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350406.1:c.796G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337335.1:p.Ala266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350407.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337336.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350408.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337337.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519293"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350409.1:c.475G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337338.1:p.Ala159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350410.1:c.475G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337339.1:p.Ala159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519295"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_011515026.3:c.796G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513328.1:p.Ala266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1527,
          "referenceAllele": "G",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_017011541.1:c.904G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867030.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_017011542.2:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867031.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565374"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1247,
          "referenceAllele": "G",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_017011544.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867033.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_017011546.2:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867035.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_017011547.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867036.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_017011550.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867039.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XM_017011551.1:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867040.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XR_001743779.1:n.1174G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "XR_001743780.1:n.1174G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072129410",
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_014809.4:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055624.2:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668507",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378214.8:c.931G="
          },
          "RefSeq": {
            "hgvs": "NM_014809.4:c.931G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367459.3:p.Ala311="
          },
          "RefSeq": {
            "hgvs": "NP_055624.2:p.Ala311="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1601,
          "referenceAllele": "G",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001168375.2:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001161847.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350403.2:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337332.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1332,
          "referenceAllele": "G",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350404.2:c.913G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337333.1:p.Ala305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1601,
          "referenceAllele": "G",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350405.2:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337334.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "referenceAllele": "G",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350406.2:c.796G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337335.1:p.Ala266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350407.2:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337336.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350408.2:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337337.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350409.2:c.475G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337338.1:p.Ala159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001350410.2:c.475G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337339.1:p.Ala159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1583,
          "referenceAllele": "G",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001168374.2:c.904G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001161846.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1441,
          "referenceAllele": "G",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001168376.2:c.796G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001161848.1:p.Ala266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713293"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021580",
      "geneNCBI_id": 9856,
      "geneSymbol": "KIAA0319",
      "hgvs": [
        "NM_001168377.2:c.931G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001161849.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713294"
    }
  ],
  "type": "nucleotide"
}