{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA017020",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197614[alleleid]",
        "alleleId": 197614,
        "preferredName": "NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200104",
        "RCV": [
          "RCV000181591",
          "RCV003765118"
        ],
        "variationId": 200104
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48719857A>G?assembly=hg19",
        "id": "chr15:g.48719857A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48427660A>G?assembly=hg38",
        "id": "chr15:g.48427660A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728264",
        "rs": 794728264
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48427660,
          "referenceAllele": "A",
          "start": 48427659
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48427660A>G",
        "CM000677.2:g.48427660A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48719857,
          "referenceAllele": "A",
          "start": 48719856
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48719857A>G",
        "CM000677.1:g.48719857A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 46507149,
          "referenceAllele": "A",
          "start": 46507148
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46507149A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 223129,
          "referenceAllele": "T",
          "start": 223128
        }
      ],
      "hgvs": [
        "NG_008805.2:g.223129T>C",
        "LRG_778:g.223129T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7489,
          "referenceAllele": "T",
          "start": 7488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.7173T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Ala2391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7594,
          "referenceAllele": "T",
          "start": 7593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.*624T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:n.*624T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "T",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.1292T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "T",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682767.1:n.408T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7427,
          "referenceAllele": "T",
          "start": 7426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.7111T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Trp2371Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Trp2371Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.7111T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.7111T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Trp2371Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Trp2371Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2277,
          "referenceAllele": "T",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.2277T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:n.2277T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7567,
          "referenceAllele": "T",
          "start": 7566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.7111T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Trp2371Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Trp2371Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2480,
          "referenceAllele": "T",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.2480T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304262",
      "coordinates": [
        {
          "allele": "C",
          "end": 7506,
          "referenceAllele": "T",
          "start": 7505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.7111T>C",
        "LRG_778t1:c.7111T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Trp2371Arg",
        "hgvsWellDefined": "NP_000129.3:p.Trp2371Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304262",
      "coordinates": [
        {
          "allele": "C",
          "end": 7427,
          "referenceAllele": "T",
          "start": 7426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.7111T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Trp2371Arg",
        "hgvsWellDefined": "NP_000129.3:p.Trp2371Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.7111T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.7111T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Trp2371Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Trp2371Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}