{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA014108",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51505[alleleid]",
        "alleleId": 51505,
        "preferredName": "NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42335",
        "RCV": [
          "RCV000035171",
          "RCV000269509",
          "RCV000308253",
          "RCV000371111",
          "RCV000314068",
          "RCV000320608",
          "RCV000390665",
          "RCV000364769",
          "RCV000632032",
          "RCV001703451",
          "RCV004541071"
        ],
        "variationId": 42335
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-48779549-C-T",
        "id": "15-48779549-C-T",
        "variant": "15:48779549 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48779549C>T?assembly=hg19",
        "id": "chr15:g.48779549C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48487352C>T?assembly=hg38",
        "id": "chr15:g.48487352C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140396599",
        "rs": 140396599
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48779549-C-T?dataset=gnomad_r2_1",
        "id": "15-48779549-C-T",
        "variant": "15:48779549 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48487352-C-T?dataset=gnomad_r3",
        "id": "15-48487352-C-T",
        "variant": "15:48487352 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48487352-C-T?dataset=gnomad_r4",
        "id": "15-48487352-C-T",
        "variant": "15:48487352 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48487352,
          "referenceAllele": "C",
          "start": 48487351
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48487352C>T",
        "CM000677.2:g.48487352C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48779549,
          "referenceAllele": "C",
          "start": 48779548
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48779549C>T",
        "CM000677.1:g.48779549C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 46566841,
          "referenceAllele": "C",
          "start": 46566840
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46566841C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163437,
          "referenceAllele": "G",
          "start": 163436
        }
      ],
      "hgvs": [
        "NG_008805.2:g.163437G>A",
        "LRG_778:g.163437G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3739,
          "referenceAllele": "G",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.3423G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Pro1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3739,
          "referenceAllele": "G",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.3423G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Pro1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "G",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.2097G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3739,
          "referenceAllele": "G",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.3423G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Pro1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.3423G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.3423G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Pro1141="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Pro1141="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3879,
          "referenceAllele": "G",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.3423G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Pro1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 952,
          "endIntronDirection": "-",
          "endIntronOffset": 12701,
          "referenceAllele": "G",
          "start": 952,
          "startIntronDirection": "-",
          "startIntronOffset": 12702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.637-12702G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.637-12702G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825058083",
      "coordinates": [
        {
          "allele": "A",
          "end": 3818,
          "referenceAllele": "G",
          "start": 3817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.3423G>A",
        "LRG_778t1:c.3423G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Pro1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825058083",
      "coordinates": [
        {
          "allele": "A",
          "end": 3739,
          "referenceAllele": "G",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.3423G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Pro1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.3423G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.3423G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Pro1141="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Pro1141="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}