{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1968100",
  "communityStandardTitle": [
    "NM_000210.4(ITGA6):c.1374A>G (p.Ser458=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4582810"
      },
      {
        "active": false,
        "id": "COSM4582811"
      },
      {
        "active": false,
        "id": "COSM4582812"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=282907[alleleid]",
        "alleleId": 282907,
        "preferredName": "NM_000210.4(ITGA6):c.1374A>G (p.Ser458=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/332361",
        "RCV": [
          "RCV000350753",
          "RCV000942264"
        ],
        "variationId": 332361
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-173341227-A-G",
        "id": "2-173341227-A-G",
        "variant": "2:173341227 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.173341227A>G?assembly=hg19",
        "id": "chr2:g.173341227A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.172476499A>G?assembly=hg38",
        "id": "chr2:g.172476499A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138908657",
        "rs": 138908657
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-173341227-A-G?dataset=gnomad_r2_1",
        "id": "2-173341227-A-G",
        "variant": "2:173341227 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-172476499-A-G?dataset=gnomad_r3",
        "id": "2-172476499-A-G",
        "variant": "2:172476499 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-172476499-A-G?dataset=gnomad_r4",
        "id": "2-172476499-A-G",
        "variant": "2:172476499 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 172476499,
          "referenceAllele": "A",
          "start": 172476498
        }
      ],
      "hgvs": [
        "NC_000002.12:g.172476499A>G",
        "CM000664.2:g.172476499A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 173341227,
          "referenceAllele": "A",
          "start": 173341226
        }
      ],
      "hgvs": [
        "NC_000002.11:g.173341227A>G",
        "CM000664.1:g.173341227A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 173049473,
          "referenceAllele": "A",
          "start": 173049472
        }
      ],
      "hgvs": [
        "NC_000002.10:g.173049473A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53914,
          "referenceAllele": "A",
          "start": 53913
        }
      ],
      "hgvs": [
        "NG_008853.1:g.53914A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001250"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1495,
          "referenceAllele": "A",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "ENST00000264107.12:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264107.8:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1694,
          "referenceAllele": "A",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "ENST00000442250.6:c.1491A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406694.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824934",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442250.6:c.1491A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001394928.1:c.1491A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406694.1:p.Ser497="
          },
          "RefSeq": {
            "hgvs": "NP_001381857.1:p.Ser497="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "ENST00000684293.1:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508249.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829249",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000684293.1:c.1374A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000210.4:c.1374A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000508249.1:p.Ser458="
          },
          "RefSeq": {
            "hgvs": "NP_000201.2:p.Ser458="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "ENST00000409080.6:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386896.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "A",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "ENST00000264107.11:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264107.7:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1374,
          "referenceAllele": "A",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "ENST00000409080.5:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386896.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1230,
          "referenceAllele": "A",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "ENST00000409532.5:c.1017A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386614.1:p.Ser339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1491,
          "referenceAllele": "A",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "ENST00000442250.5:c.1491A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406694.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1359,
          "referenceAllele": "A",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "ENST00000458358.5:c.1359A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394169.1:p.Ser453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825085236",
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_000210.2:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000201.2:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825085236",
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "A",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_000210.3:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000201.2:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825448483",
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_001079818.1:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073286.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825448483",
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "A",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_001079818.2:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073286.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826953360",
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "A",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_001316306.1:c.1017A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303235.1:p.Ser339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "XM_006712510.1:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712573.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "XM_006712511.1:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712574.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828179459",
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_001365529.1:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352458.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828179752",
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_001365530.1:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352459.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1304,
          "referenceAllele": "A",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "XM_017004005.1:c.1032A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859494.1:p.Ser344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1304,
          "referenceAllele": "A",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "XM_017004006.1:c.1032A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859495.1:p.Ser344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1304,
          "referenceAllele": "A",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "XM_017004007.1:c.1032A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859496.1:p.Ser344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1304,
          "referenceAllele": "A",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "XM_017004008.1:c.1032A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859497.1:p.Ser344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 11924,
          "referenceAllele": "T",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 11925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040308",
      "geneNCBI_id": 101929947,
      "geneSymbol": "ITGA6-AS1",
      "hgvs": [
        "XR_001739781.1:n.410-11925T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 10477,
          "referenceAllele": "T",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 10478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040308",
      "geneNCBI_id": 101929947,
      "geneSymbol": "ITGA6-AS1",
      "hgvs": [
        "XR_001739782.1:n.410-10478T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 10477,
          "referenceAllele": "T",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 10478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040308",
      "geneNCBI_id": 101929947,
      "geneSymbol": "ITGA6-AS1",
      "hgvs": [
        "XR_001739784.1:n.410-10478T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 10477,
          "referenceAllele": "T",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 10478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040308",
      "geneNCBI_id": 101929947,
      "geneSymbol": "ITGA6-AS1",
      "hgvs": [
        "XR_001739785.1:n.410-10478T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "endIntronDirection": "-",
          "endIntronOffset": 10477,
          "referenceAllele": "T",
          "start": 520,
          "startIntronDirection": "-",
          "startIntronOffset": 10478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040308",
      "geneNCBI_id": 101929947,
      "geneSymbol": "ITGA6-AS1",
      "hgvs": [
        "XR_001739786.1:n.521-10478T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 11924,
          "referenceAllele": "T",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 11925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040308",
      "geneNCBI_id": 101929947,
      "geneSymbol": "ITGA6-AS1",
      "hgvs": [
        "XR_001739788.1:n.505-11925T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590084"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825448483",
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_001079818.3:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073286.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825085236",
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_000210.4:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000201.2:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000684293.1:c.1374A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000210.4:c.1374A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000508249.1:p.Ser458="
          },
          "RefSeq": {
            "hgvs": "NP_000201.2:p.Ser458="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826953360",
      "coordinates": [
        {
          "allele": "G",
          "end": 1312,
          "referenceAllele": "A",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_001316306.2:c.1017A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303235.1:p.Ser339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828179459",
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_001365529.2:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352458.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691026"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828179752",
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "A",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_001365530.2:c.1374A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352459.1:p.Ser458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1694,
          "referenceAllele": "A",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006142",
      "geneNCBI_id": 3655,
      "geneSymbol": "ITGA6",
      "hgvs": [
        "NM_001394928.1:c.1491A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381857.1:p.Ser497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782547",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442250.6:c.1491A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001394928.1:c.1491A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406694.1:p.Ser497="
          },
          "RefSeq": {
            "hgvs": "NP_001381857.1:p.Ser497="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}