{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10636118",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.*2395G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=322731[alleleid]",
        "alleleId": 322731,
        "preferredName": "NM_000138.5(FBN1):c.*2395G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/316306",
        "RCV": [
          "RCV000274471",
          "RCV000287516",
          "RCV000327277",
          "RCV000333103",
          "RCV000344869",
          "RCV000378503",
          "RCV000384154"
        ],
        "variationId": 316306
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48700792C>T?assembly=hg19",
        "id": "chr15:g.48700792C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48408595C>T?assembly=hg38",
        "id": "chr15:g.48408595C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/184719603",
        "rs": 184719603
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48700792-C-T?dataset=gnomad_r2_1",
        "id": "15-48700792-C-T",
        "variant": "15:48700792 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48408595-C-T?dataset=gnomad_r3",
        "id": "15-48408595-C-T",
        "variant": "15:48408595 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48408595-C-T?dataset=gnomad_r4",
        "id": "15-48408595-C-T",
        "variant": "15:48408595 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48408595,
          "referenceAllele": "C",
          "start": 48408594
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48408595C>T",
        "CM000677.2:g.48408595C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48700792,
          "referenceAllele": "C",
          "start": 48700791
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48700792C>T",
        "CM000677.1:g.48700792C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 46488084,
          "referenceAllele": "C",
          "start": 46488083
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46488084C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242194,
          "referenceAllele": "G",
          "start": 242193
        }
      ],
      "hgvs": [
        "NG_008805.2:g.242194G>A",
        "LRG_778:g.242194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5192,
          "referenceAllele": "G",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.5192G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4308,
          "referenceAllele": "G",
          "start": 4307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682767.1:n.4308G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11327,
          "referenceAllele": "G",
          "start": 11326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.*2395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:n.*2395G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.*2395G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.*2395G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:n.*2395G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:n.*2395G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11467,
          "referenceAllele": "G",
          "start": 11466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.*2395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:n.*2395G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11406,
          "referenceAllele": "G",
          "start": 11405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.*2395G>A",
        "LRG_778t1:c.*2395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:n.*2395G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11327,
          "referenceAllele": "G",
          "start": 11326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.*2395G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:n.*2395G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.*2395G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.*2395G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:n.*2395G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:n.*2395G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}