{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10646174",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.*1298C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=339245[alleleid]",
        "alleleId": 339245,
        "preferredName": "NM_000138.5(FBN1):c.*1298C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/316338",
        "RCV": [
          "RCV000281194",
          "RCV000285339",
          "RCV000309827",
          "RCV000336286",
          "RCV000340264",
          "RCV000375598",
          "RCV000390296",
          "RCV002262990"
        ],
        "variationId": 316338
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48701889G>C?assembly=hg19",
        "id": "chr15:g.48701889G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48409692G>C?assembly=hg38",
        "id": "chr15:g.48409692G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143446014",
        "rs": 143446014
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48701889-G-C?dataset=gnomad_r2_1",
        "id": "15-48701889-G-C",
        "variant": "15:48701889 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48409692-G-C?dataset=gnomad_r3",
        "id": "15-48409692-G-C",
        "variant": "15:48409692 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48409692-G-C?dataset=gnomad_r4",
        "id": "15-48409692-G-C",
        "variant": "15:48409692 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48409692,
          "referenceAllele": "G",
          "start": 48409691
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48409692G>C",
        "CM000677.2:g.48409692G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48701889,
          "referenceAllele": "G",
          "start": 48701888
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48701889G>C",
        "CM000677.1:g.48701889G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 46489181,
          "referenceAllele": "G",
          "start": 46489180
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46489181G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241097,
          "referenceAllele": "C",
          "start": 241096
        }
      ],
      "hgvs": [
        "NG_008805.2:g.241097C>G",
        "LRG_778:g.241097C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4095,
          "referenceAllele": "C",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.4095C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3211,
          "referenceAllele": "C",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682767.1:n.3211C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10230,
          "referenceAllele": "C",
          "start": 10229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.*1298C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:n.*1298C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.*1298C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.*1298C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:n.*1298C>G"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:n.*1298C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10370,
          "referenceAllele": "C",
          "start": 10369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.*1298C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:n.*1298C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10309,
          "referenceAllele": "C",
          "start": 10308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.*1298C>G",
        "LRG_778t1:c.*1298C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:n.*1298C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10230,
          "referenceAllele": "C",
          "start": 10229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.*1298C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:n.*1298C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.*1298C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.*1298C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:n.*1298C>G"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:n.*1298C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}