{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392347835",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.1027G>C (p.Gly343Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4905708[alleleid]",
        "alleleId": 4905708,
        "preferredName": "NM_000138.5(FBN1):c.1027G>C (p.Gly343Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4793032",
        "RCV": [
          "RCV006596932"
        ],
        "variationId": 4793032
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48812976C>G?assembly=hg19",
        "id": "chr15:g.48812976C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48520779C>G?assembly=hg38",
        "id": "chr15:g.48520779C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48520779,
          "referenceAllele": "C",
          "start": 48520778
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48520779C>G",
        "CM000677.2:g.48520779C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48812976,
          "referenceAllele": "C",
          "start": 48812975
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48812976C>G",
        "CM000677.1:g.48812976C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 46600268,
          "referenceAllele": "C",
          "start": 46600267
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46600268C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130010,
          "referenceAllele": "G",
          "start": 130009
        }
      ],
      "hgvs": [
        "NG_008805.2:g.130010G>C",
        "LRG_778:g.130010G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.1027G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Gly343Arg",
        "hgvsWellDefined": "ENSP00000453958.2:p.Gly343Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.1027G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Gly343Arg",
        "hgvsWellDefined": "ENSP00000501333.2:p.Gly343Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.1027G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Gly343Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Gly343Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.1027G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.1027G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Gly343Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Gly343Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1483,
          "referenceAllele": "G",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.1027G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Gly343Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Gly343Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 952,
          "endIntronDirection": "+",
          "endIntronOffset": 16932,
          "referenceAllele": "G",
          "start": 952,
          "startIntronDirection": "+",
          "startIntronOffset": 16931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.636+16932G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.636+16932G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA295237",
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.1027G>C",
        "LRG_778t1:c.1027G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Gly343Arg",
        "hgvsWellDefined": "NP_000129.3:p.Gly343Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA295237",
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.1027G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Gly343Arg",
        "hgvsWellDefined": "NP_000129.3:p.Gly343Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.1027G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.1027G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Gly343Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Gly343Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}