{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6955953",
  "communityStandardTitle": [
    "NM_207361.6(FREM2):c.7663G>T (p.Val2555Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=336380[alleleid]",
        "alleleId": 336380,
        "preferredName": "NM_207361.6(FREM2):c.7663G>T (p.Val2555Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/312019",
        "RCV": [
          "RCV000380191",
          "RCV001089662",
          "RCV002056385",
          "RCV003910166"
        ],
        "variationId": 312019
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-39438423-G-T",
        "id": "13-39438423-G-T",
        "variant": "13:39438423 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.39438423G>T?assembly=hg19",
        "id": "chr13:g.39438423G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.38864286G>T?assembly=hg38",
        "id": "chr13:g.38864286G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200997496",
        "rs": 200997496
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-39438423-G-T?dataset=gnomad_r2_1",
        "id": "13-39438423-G-T",
        "variant": "13:39438423 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-38864286-G-T?dataset=gnomad_r3",
        "id": "13-38864286-G-T",
        "variant": "13:38864286 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-38864286-G-T?dataset=gnomad_r4",
        "id": "13-38864286-G-T",
        "variant": "13:38864286 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 38864286,
          "referenceAllele": "G",
          "start": 38864285
        }
      ],
      "hgvs": [
        "NC_000013.11:g.38864286G>T",
        "CM000675.2:g.38864286G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 39438423,
          "referenceAllele": "G",
          "start": 39438422
        }
      ],
      "hgvs": [
        "NC_000013.10:g.39438423G>T",
        "CM000675.1:g.39438423G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 38336423,
          "referenceAllele": "G",
          "start": 38336422
        }
      ],
      "hgvs": [
        "NC_000013.9:g.38336423G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182251,
          "referenceAllele": "G",
          "start": 182250
        }
      ],
      "hgvs": [
        "NG_008125.2:g.182251G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000870"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7931,
          "referenceAllele": "G",
          "start": 7930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "ENST00000280481.9:c.7663G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280481.7:p.Val2555Leu",
        "hgvsWellDefined": "ENSP00000280481.7:p.Val2555Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280481.9:c.7663G>T"
          },
          "RefSeq": {
            "hgvs": "NM_207361.6:c.7663G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280481.7:p.Val2555Leu"
          },
          "RefSeq": {
            "hgvs": "NP_997244.4:p.Val2555Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7879,
          "referenceAllele": "G",
          "start": 7878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "ENST00000280481.8:c.7663G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280481.7:p.Val2555Leu",
        "hgvsWellDefined": "ENSP00000280481.7:p.Val2555Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645502429",
      "coordinates": [
        {
          "allele": "T",
          "end": 7972,
          "referenceAllele": "G",
          "start": 7971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NM_207361.5:c.7663G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997244.4:p.Val2555Leu",
        "hgvsWellDefined": "NP_997244.4:p.Val2555Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645502429",
      "coordinates": [
        {
          "allele": "T",
          "end": 7931,
          "referenceAllele": "G",
          "start": 7930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NM_207361.6:c.7663G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997244.4:p.Val2555Leu",
        "hgvsWellDefined": "NP_997244.4:p.Val2555Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673302",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280481.9:c.7663G>T"
          },
          "RefSeq": {
            "hgvs": "NM_207361.6:c.7663G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280481.7:p.Val2555Leu"
          },
          "RefSeq": {
            "hgvs": "NP_997244.4:p.Val2555Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}