{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9448109",
  "communityStandardTitle": [
    "NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1303076[alleleid]",
        "alleleId": 1303076,
        "preferredName": "NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1312815",
        "RCV": [
          "RCV001774269",
          "RCV001825027"
        ],
        "variationId": 1312815
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-41112172-C-T",
        "id": "19-41112172-C-T",
        "variant": "19:41112172 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41112172C>T?assembly=hg19",
        "id": "chr19:g.41112172C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.40606266C>T?assembly=hg38",
        "id": "chr19:g.40606266C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760578075",
        "rs": 760578075
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41112172-C-T?dataset=gnomad_r2_1",
        "id": "19-41112172-C-T",
        "variant": "19:41112172 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40606266-C-T?dataset=gnomad_r3",
        "id": "19-40606266-C-T",
        "variant": "19:40606266 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-40606266-C-T?dataset=gnomad_r4",
        "id": "19-40606266-C-T",
        "variant": "19:40606266 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 40606266,
          "referenceAllele": "C",
          "start": 40606265
        }
      ],
      "hgvs": [
        "NC_000019.10:g.40606266C>T",
        "CM000681.2:g.40606266C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41112172,
          "referenceAllele": "C",
          "start": 41112171
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41112172C>T",
        "CM000681.1:g.41112172C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 45804012,
          "referenceAllele": "C",
          "start": 45804011
        }
      ],
      "hgvs": [
        "NC_000019.8:g.45804012C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18101,
          "referenceAllele": "C",
          "start": 18100
        }
      ],
      "hgvs": [
        "NG_021201.1:g.18101C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003478"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000396819.8:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380031.5:p.Pro276Leu",
        "hgvsWellDefined": "ENSP00000380031.5:p.Pro276Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396819.8:c.827C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001042545.2:c.827C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380031.5:p.Pro276Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001036010.1:p.Pro276Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000204005.13:c.917C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000204005.10:p.Pro306Leu",
        "hgvsWellDefined": "ENSP00000204005.10:p.Pro306Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000308370.11:c.1028C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311905.8:p.Pro343Leu",
        "hgvsWellDefined": "ENSP00000311905.8:p.Pro343Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000396819.7:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380031.4:p.Pro276Leu",
        "hgvsWellDefined": "ENSP00000380031.4:p.Pro276Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "endIntronDirection": "-",
          "endIntronOffset": 5107,
          "referenceAllele": "C",
          "start": 428,
          "startIntronDirection": "-",
          "startIntronOffset": 5108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "ENST00000598717.5:n.429-5108C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573064714",
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "NM_001042544.1:c.1028C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036009.1:p.Pro343Leu",
        "hgvsWellDefined": "NP_001036009.1:p.Pro343Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825412079",
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "NM_001042545.1:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036010.1:p.Pro276Leu",
        "hgvsWellDefined": "NP_001036010.1:p.Pro276Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829454432",
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "NM_003573.2:c.917C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003564.2:p.Pro306Leu",
        "hgvsWellDefined": "NP_003564.2:p.Pro306Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527376.1:c.1028C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525678.1:p.Pro343Leu",
        "hgvsWellDefined": "XP_011525678.1:p.Pro343Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527377.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525679.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525679.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527378.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525680.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525680.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527379.1:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525681.1:p.Pro276Leu",
        "hgvsWellDefined": "XP_011525681.1:p.Pro276Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527380.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525682.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525682.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527381.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525683.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525683.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527382.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525684.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525684.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527383.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525685.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525685.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527384.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525686.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525686.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527385.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525687.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525687.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527386.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525688.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525688.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527387.1:c.419C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525689.1:p.Pro140Leu",
        "hgvsWellDefined": "XP_011525689.1:p.Pro140Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527376.2:c.1028C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525678.1:p.Pro343Leu",
        "hgvsWellDefined": "XP_011525678.1:p.Pro343Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527377.2:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525679.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525679.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527378.2:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525680.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525680.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527380.2:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525682.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525682.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527381.2:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525683.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525683.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527382.2:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525684.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525684.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527383.2:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525685.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525685.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527384.2:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525686.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525686.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527385.2:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525687.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525687.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_011527386.2:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525688.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_011525688.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_017027352.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882841.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_016882841.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_017027353.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882842.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_016882842.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_017027354.1:c.1061C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882843.1:p.Pro354Leu",
        "hgvsWellDefined": "XP_016882843.1:p.Pro354Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825412079",
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "NM_001042545.2:c.827C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036010.1:p.Pro276Leu",
        "hgvsWellDefined": "NP_001036010.1:p.Pro276Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676054",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396819.8:c.827C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001042545.2:c.827C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380031.5:p.Pro276Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001036010.1:p.Pro276Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}