{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2036241659",
  "communityStandardTitle": [
    "NM_000020.3(ACVRL1):c.1378G= (p.Val460=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768781558",
        "rs": 768781558
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 51920759,
          "referenceAllele": "G",
          "start": 51920758
        }
      ],
      "hgvs": [
        "NC_000012.12:g.51920759G=",
        "CM000674.2:g.51920759G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 52314543,
          "referenceAllele": "G",
          "start": 52314542
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52314543G=",
        "CM000674.1:g.52314543G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 50600810,
          "referenceAllele": "G",
          "start": 50600809
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50600810G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18342,
          "referenceAllele": "G",
          "start": 18341
        }
      ],
      "hgvs": [
        "NG_009549.1:g.18342G=",
        "LRG_543:g.18342G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001604"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1212,
          "referenceAllele": "G",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000547400.6:c.1108G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446724.2:p.Val370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000551576.6:c.1378G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455848.2:p.Val460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.9:c.1378G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Val460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752763",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.1378G="
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.1378G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Val460="
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Val460="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.8:c.1378G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Val460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "G",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000419526.6:c.856G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392492.2:p.Val286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1521,
          "referenceAllele": "G",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000550683.5:c.1420G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447884.1:p.Val474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079626705",
      "coordinates": [
        {
          "allele": "G",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.2:c.1378G=",
        "LRG_543t1:c.1378G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Val460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.1:c.1378G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Val460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "G",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_005269235.2:c.1378G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269292.1:p.Val460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_011539008.1:c.1108G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537310.1:p.Val370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_024449279.1:c.589G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305047.1:p.Val197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079626705",
      "coordinates": [
        {
          "allele": "G",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.3:c.1378G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Val460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.1378G="
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.1378G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Val460="
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Val460="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.2:c.1378G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Val460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676153"
    }
  ],
  "type": "nucleotide"
}