{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10647086",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=340729[alleleid]",
        "alleleId": 340729,
        "preferredName": "NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/316366",
        "RCV": [
          "RCV000283843",
          "RCV000298102",
          "RCV000338852",
          "RCV000353034",
          "RCV000368091",
          "RCV000396161",
          "RCV000398246",
          "RCV003765834"
        ],
        "variationId": 316366
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48722938G>A?assembly=hg19",
        "id": "chr15:g.48722938G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48430741G>A?assembly=hg38",
        "id": "chr15:g.48430741G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886051245",
        "rs": 886051245
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48430741-G-A?dataset=gnomad_r4",
        "id": "15-48430741-G-A",
        "variant": "15:48430741 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48430741,
          "referenceAllele": "G",
          "start": 48430740
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48430741G>A",
        "CM000677.2:g.48430741G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48722938,
          "referenceAllele": "G",
          "start": 48722937
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48722938G>A",
        "CM000677.1:g.48722938G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 46510230,
          "referenceAllele": "G",
          "start": 46510229
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46510230G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 220048,
          "referenceAllele": "C",
          "start": 220047
        }
      ],
      "hgvs": [
        "NG_008805.2:g.220048C>T",
        "LRG_778:g.220048C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7117,
          "referenceAllele": "C",
          "start": 7116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.6801C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Asn2267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7222,
          "referenceAllele": "C",
          "start": 7221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.*252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:n.*252C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.410C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7117,
          "referenceAllele": "C",
          "start": 7116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.6801C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Asn2267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6801C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6801C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Asn2267="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Asn2267="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.1905C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:n.1905C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7257,
          "referenceAllele": "C",
          "start": 7256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.6801C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Asn2267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2108,
          "referenceAllele": "C",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.2108C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000560720.1:n.88C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825059656",
      "coordinates": [
        {
          "allele": "T",
          "end": 7196,
          "referenceAllele": "C",
          "start": 7195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.6801C>T",
        "LRG_778t1:c.6801C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Asn2267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825059656",
      "coordinates": [
        {
          "allele": "T",
          "end": 7117,
          "referenceAllele": "C",
          "start": 7116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.6801C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Asn2267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6801C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6801C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Asn2267="
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Asn2267="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}