{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119395",
  "communityStandardTitle": [
    "NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=548918",
        "active": true,
        "id": "COSM548918"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6072720",
        "active": true,
        "id": "COSM6072720"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23282[alleleid]",
        "alleleId": 23282,
        "preferredName": "NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8243",
        "RCV": [
          "RCV000008726",
          "RCV000008727",
          "RCV000522363",
          "RCV002371767"
        ],
        "variationId": 8243
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-52310003-G-A",
        "id": "12-52310003-G-A",
        "variant": "12:52310003 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52310003G>A?assembly=hg19",
        "id": "chr12:g.52310003G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.51916219G>A?assembly=hg38",
        "id": "chr12:g.51916219G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909284",
        "rs": 121909284
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52310003-G-A?dataset=gnomad_r2_1",
        "id": "12-52310003-G-A",
        "variant": "12:52310003 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-51916219-G-A?dataset=gnomad_r4",
        "id": "12-51916219-G-A",
        "variant": "12:51916219 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 51916219,
          "referenceAllele": "G",
          "start": 51916218
        }
      ],
      "hgvs": [
        "NC_000012.12:g.51916219G>A",
        "CM000674.2:g.51916219G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 52310003,
          "referenceAllele": "G",
          "start": 52310002
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52310003G>A",
        "CM000674.1:g.52310003G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 50596270,
          "referenceAllele": "G",
          "start": 50596269
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50596270G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13802,
          "referenceAllele": "G",
          "start": 13801
        }
      ],
      "hgvs": [
        "NG_009549.1:g.13802G>A",
        "LRG_543:g.13802G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001604"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000547400.6:c.962G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446724.2:p.Arg321Gln",
        "hgvsWellDefined": "ENSP00000446724.2:p.Arg321Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1522,
          "referenceAllele": "G",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000551576.6:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455848.2:p.Arg411Gln",
        "hgvsWellDefined": "ENSP00000455848.2:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000552678.2:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457394.2:p.Arg411Gln",
        "hgvsWellDefined": "ENSP00000457394.2:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1429,
          "referenceAllele": "G",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.9:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Arg411Gln",
        "hgvsWellDefined": "ENSP00000373574.4:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752763",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.1232G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.1232G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Arg411Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Arg411Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.8:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Arg411Gln",
        "hgvsWellDefined": "ENSP00000373574.4:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000419526.6:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392492.2:p.Arg237Gln",
        "hgvsWellDefined": "ENSP00000392492.2:p.Arg237Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000547632.1:n.507G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1375,
          "referenceAllele": "G",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000550683.5:c.1274G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447884.1:p.Arg425Gln",
        "hgvsWellDefined": "ENSP00000447884.1:p.Arg425Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 237,
          "referenceAllele": "G",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000552678.1:c.237G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091067",
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.2:c.1232G>A",
        "LRG_543t1:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Arg411Gln",
        "hgvsWellDefined": "NP_000011.2:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963753",
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.1:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Arg411Gln",
        "hgvsWellDefined": "NP_001070869.1:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "G",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_005269235.2:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269292.1:p.Arg411Gln",
        "hgvsWellDefined": "XP_005269292.1:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1061,
          "referenceAllele": "G",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_011539008.1:c.962G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537310.1:p.Arg321Gln",
        "hgvsWellDefined": "XP_011537310.1:p.Arg321Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_024449279.1:c.443G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305047.1:p.Arg148Gln",
        "hgvsWellDefined": "XP_024305047.1:p.Arg148Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091067",
      "coordinates": [
        {
          "allele": "A",
          "end": 1429,
          "referenceAllele": "G",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.3:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Arg411Gln",
        "hgvsWellDefined": "NP_000011.2:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.1232G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.1232G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Arg411Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Arg411Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963753",
      "coordinates": [
        {
          "allele": "A",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.2:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Arg411Gln",
        "hgvsWellDefined": "NP_001070869.1:p.Arg411Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676153"
    }
  ],
  "type": "nucleotide"
}