{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384901452",
  "communityStandardTitle": [
    "NM_000020.3(ACVRL1):c.988G>C (p.Asp330His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3227971[alleleid]",
        "alleleId": 3227971,
        "preferredName": "NM_000020.3(ACVRL1):c.988G>C (p.Asp330His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3068644",
        "RCV": [
          "RCV003994713"
        ],
        "variationId": 3068644
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52309224G>C?assembly=hg19",
        "id": "chr12:g.52309224G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.51915440G>C?assembly=hg38",
        "id": "chr12:g.51915440G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2540164775",
        "rs": 2540164775
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 51915440,
          "referenceAllele": "G",
          "start": 51915439
        }
      ],
      "hgvs": [
        "NC_000012.12:g.51915440G>C",
        "CM000674.2:g.51915440G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 52309224,
          "referenceAllele": "G",
          "start": 52309223
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52309224G>C",
        "CM000674.1:g.52309224G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 50595491,
          "referenceAllele": "G",
          "start": 50595490
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50595491G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13023,
          "referenceAllele": "G",
          "start": 13022
        }
      ],
      "hgvs": [
        "NG_009549.1:g.13023G>C",
        "LRG_543:g.13023G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001604"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 822,
          "referenceAllele": "G",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000547400.6:c.718G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446724.2:p.Asp240His",
        "hgvsWellDefined": "ENSP00000446724.2:p.Asp240His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000551576.6:c.988G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455848.2:p.Asp330His",
        "hgvsWellDefined": "ENSP00000455848.2:p.Asp330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000552678.2:c.988G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457394.2:p.Asp330His",
        "hgvsWellDefined": "ENSP00000457394.2:p.Asp330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.9:c.988G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Asp330His",
        "hgvsWellDefined": "ENSP00000373574.4:p.Asp330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752763",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.988G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.988G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Asp330His"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Asp330His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000388922.8:c.988G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Asp330His",
        "hgvsWellDefined": "ENSP00000373574.4:p.Asp330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000419526.6:c.466G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392492.2:p.Asp156His",
        "hgvsWellDefined": "ENSP00000392492.2:p.Asp156His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1131,
          "referenceAllele": "G",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000550683.5:c.1030G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447884.1:p.Asp344His",
        "hgvsWellDefined": "ENSP00000447884.1:p.Asp344His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825004842",
      "coordinates": [
        {
          "allele": "C",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.2:c.988G>C",
        "LRG_543t1:c.988G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Asp330His",
        "hgvsWellDefined": "NP_000011.2:p.Asp330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825449036",
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.1:c.988G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Asp330His",
        "hgvsWellDefined": "NP_001070869.1:p.Asp330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009968"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_005269235.2:c.988G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269292.1:p.Asp330His",
        "hgvsWellDefined": "XP_005269292.1:p.Asp330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 817,
          "referenceAllele": "G",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_011539008.1:c.718G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537310.1:p.Asp240His",
        "hgvsWellDefined": "XP_011537310.1:p.Asp240His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105961"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 647,
          "referenceAllele": "G",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_024449279.1:c.199G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305047.1:p.Asp67His",
        "hgvsWellDefined": "XP_024305047.1:p.Asp67His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825004842",
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.3:c.988G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Asp330His",
        "hgvsWellDefined": "NP_000011.2:p.Asp330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.988G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.988G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Asp330His"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Asp330His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825449036",
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.2:c.988G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Asp330His",
        "hgvsWellDefined": "NP_001070869.1:p.Asp330His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676153"
    }
  ],
  "type": "nucleotide"
}