{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9449012",
  "communityStandardTitle": [
    "NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5972960",
        "active": true,
        "id": "COSM5972960"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5972962",
        "active": true,
        "id": "COSM5972962"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5972963",
        "active": true,
        "id": "COSM5972963"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=446136[alleleid]",
        "alleleId": 446136,
        "preferredName": "NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/451742",
        "RCV": [
          "RCV000521221",
          "RCV001333138"
        ],
        "variationId": 451742
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-41128566-G-A",
        "id": "19-41128566-G-A",
        "variant": "19:41128566 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41128566G>A?assembly=hg19",
        "id": "chr19:g.41128566G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.40622661G>A?assembly=hg38",
        "id": "chr19:g.40622661G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778595954",
        "rs": 778595954
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41128566-G-A?dataset=gnomad_r2_1",
        "id": "19-41128566-G-A",
        "variant": "19:41128566 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40622661-G-A?dataset=gnomad_r3",
        "id": "19-40622661-G-A",
        "variant": "19:40622661 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40622661-G-A?dataset=gnomad_r4",
        "id": "19-40622661-G-A",
        "variant": "19:40622661 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 40622661,
          "referenceAllele": "G",
          "start": 40622660
        }
      ],
      "hgvs": [
        "NC_000019.10:g.40622661G>A",
        "CM000681.2:g.40622661G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41128566,
          "referenceAllele": "G",
          "start": 41128565
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41128566G>A",
        "CM000681.1:g.41128566G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 45820406,
          "referenceAllele": "G",
          "start": 45820405
        }
      ],
      "hgvs": [
        "NC_000019.8:g.45820406G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34496,
          "referenceAllele": "G",
          "start": 34495
        }
      ],
      "hgvs": [
        "NG_021201.1:g.34496G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003478"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3497,
          "referenceAllele": "G",
          "start": 3496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000396819.8:c.3478G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380031.5:p.Glu1160Lys",
        "hgvsWellDefined": "ENSP00000380031.5:p.Glu1160Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396819.8:c.3478G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001042545.2:c.3478G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380031.5:p.Glu1160Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001036010.1:p.Glu1160Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3568,
          "referenceAllele": "G",
          "start": 3567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000204005.13:c.3568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000204005.10:p.Glu1190Lys",
        "hgvsWellDefined": "ENSP00000204005.10:p.Glu1190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1677,
          "referenceAllele": "G",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000243562.13:c.1677G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS249269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3679,
          "referenceAllele": "G",
          "start": 3678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000308370.11:c.3679G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311905.8:p.Glu1227Lys",
        "hgvsWellDefined": "ENSP00000311905.8:p.Glu1227Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000318809.11:n.484-943G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS257582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3495,
          "referenceAllele": "G",
          "start": 3494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000396819.7:c.3478G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380031.4:p.Glu1160Lys",
        "hgvsWellDefined": "ENSP00000380031.4:p.Glu1160Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 534,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000593463.5:c.535-943G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "referenceAllele": "G",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000594116.1:n.274G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 983,
          "referenceAllele": "G",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000595118.5:n.983G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 534,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000595665.1:n.535-943G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 452,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000597816.5:n.453-943G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000599724.5:c.485-943G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469785.1:n.485-943G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1115,
          "referenceAllele": "G",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000601032.5:c.1115G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000622107.4:n.545-943G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 384,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 384,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000622457.1:c.385-943G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 726,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000622565.4:n.727-943G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658661759",
      "coordinates": [
        {
          "allele": "A",
          "end": 3679,
          "referenceAllele": "G",
          "start": 3678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "NM_001042544.1:c.3679G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036009.1:p.Glu1227Lys",
        "hgvsWellDefined": "NP_001036009.1:p.Glu1227Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825412405",
      "coordinates": [
        {
          "allele": "A",
          "end": 3495,
          "referenceAllele": "G",
          "start": 3494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "NM_001042545.1:c.3478G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036010.1:p.Glu1160Lys",
        "hgvsWellDefined": "NP_001036010.1:p.Glu1160Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829455168",
      "coordinates": [
        {
          "allele": "A",
          "end": 3568,
          "referenceAllele": "G",
          "start": 3567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "NM_003573.2:c.3568G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003564.2:p.Glu1190Lys",
        "hgvsWellDefined": "NP_003564.2:p.Glu1190Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3813,
          "referenceAllele": "G",
          "start": 3812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527376.1:c.3793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525678.1:p.Glu1265Lys",
        "hgvsWellDefined": "XP_011525678.1:p.Glu1265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3742,
          "referenceAllele": "G",
          "start": 3741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527377.1:c.3712G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525679.1:p.Glu1238Lys",
        "hgvsWellDefined": "XP_011525679.1:p.Glu1238Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3742,
          "referenceAllele": "G",
          "start": 3741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527378.1:c.3712G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525680.1:p.Glu1238Lys",
        "hgvsWellDefined": "XP_011525680.1:p.Glu1238Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3630,
          "referenceAllele": "G",
          "start": 3629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527379.1:c.3592G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525681.1:p.Glu1198Lys",
        "hgvsWellDefined": "XP_011525681.1:p.Glu1198Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3616,
          "referenceAllele": "G",
          "start": 3615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527380.1:c.3586G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525682.1:p.Glu1196Lys",
        "hgvsWellDefined": "XP_011525682.1:p.Glu1196Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3616,
          "referenceAllele": "G",
          "start": 3615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527381.1:c.3586G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525683.1:p.Glu1196Lys",
        "hgvsWellDefined": "XP_011525683.1:p.Glu1196Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3499,
          "referenceAllele": "G",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527382.1:c.3469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525684.1:p.Glu1157Lys",
        "hgvsWellDefined": "XP_011525684.1:p.Glu1157Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3481,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 3481,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527383.1:c.3452-943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525685.1:n.3452-943G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3355,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 3355,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527384.1:c.3326-943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525686.1:n.3326-943G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3349,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 3349,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527385.1:c.3320-943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525687.1:n.3320-943G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3223,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 3223,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527386.1:c.3194-943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525688.1:n.3194-943G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3827,
          "referenceAllele": "G",
          "start": 3826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527387.1:c.3070G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525689.1:p.Glu1024Lys",
        "hgvsWellDefined": "XP_011525689.1:p.Glu1024Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3822,
          "referenceAllele": "G",
          "start": 3821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527376.2:c.3793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525678.1:p.Glu1265Lys",
        "hgvsWellDefined": "XP_011525678.1:p.Glu1265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3727,
          "referenceAllele": "G",
          "start": 3726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527377.2:c.3712G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525679.1:p.Glu1238Lys",
        "hgvsWellDefined": "XP_011525679.1:p.Glu1238Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3727,
          "referenceAllele": "G",
          "start": 3726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527378.2:c.3712G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525680.1:p.Glu1238Lys",
        "hgvsWellDefined": "XP_011525680.1:p.Glu1238Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3601,
          "referenceAllele": "G",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527380.2:c.3586G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525682.1:p.Glu1196Lys",
        "hgvsWellDefined": "XP_011525682.1:p.Glu1196Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3601,
          "referenceAllele": "G",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527381.2:c.3586G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525683.1:p.Glu1196Lys",
        "hgvsWellDefined": "XP_011525683.1:p.Glu1196Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3484,
          "referenceAllele": "G",
          "start": 3483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527382.2:c.3469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525684.1:p.Glu1157Lys",
        "hgvsWellDefined": "XP_011525684.1:p.Glu1157Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3466,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 3466,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527383.2:c.3452-943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525685.1:n.3452-943G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548653"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3340,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 3340,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527384.2:c.3326-943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525686.1:n.3326-943G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3334,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 3334,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527385.2:c.3320-943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525687.1:n.3320-943G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3208,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 3208,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527386.2:c.3194-943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525688.1:n.3194-943G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3595,
          "referenceAllele": "G",
          "start": 3594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_017027352.1:c.3580G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882841.1:p.Glu1194Lys",
        "hgvsWellDefined": "XP_016882841.1:p.Glu1194Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3469,
          "referenceAllele": "G",
          "start": 3468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_017027353.1:c.3454G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882842.1:p.Glu1152Lys",
        "hgvsWellDefined": "XP_016882842.1:p.Glu1152Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3214,
          "endIntronDirection": "-",
          "endIntronOffset": 942,
          "referenceAllele": "G",
          "start": 3214,
          "startIntronDirection": "-",
          "startIntronOffset": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_017027354.1:c.3200-943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882843.1:n.3200-943G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825412405",
      "coordinates": [
        {
          "allele": "A",
          "end": 3497,
          "referenceAllele": "G",
          "start": 3496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "NM_001042545.2:c.3478G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036010.1:p.Glu1160Lys",
        "hgvsWellDefined": "NP_001036010.1:p.Glu1160Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676054",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396819.8:c.3478G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001042545.2:c.3478G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380031.5:p.Glu1160Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001036010.1:p.Glu1160Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}