{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114408",
  "communityStandardTitle": [
    "NM_000312.4(PROC):c.866C>T (p.Pro289Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15706[alleleid]",
        "alleleId": 15706,
        "preferredName": "NM_000312.4(PROC):c.866C>T (p.Pro289Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/667",
        "RCV": [
          "RCV000000702"
        ],
        "variationId": 667
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.128186002C>T?assembly=hg19",
        "id": "chr2:g.128186002C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.127428426C>T?assembly=hg38",
        "id": "chr2:g.127428426C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918151",
        "rs": 121918151
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-127428426-C-T?dataset=gnomad_r4",
        "id": "2-127428426-C-T",
        "variant": "2:127428426 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 127428426,
          "referenceAllele": "C",
          "start": 127428425
        }
      ],
      "hgvs": [
        "NC_000002.12:g.127428426C>T",
        "CM000664.2:g.127428426C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 128186002,
          "referenceAllele": "C",
          "start": 128186001
        }
      ],
      "hgvs": [
        "NC_000002.11:g.128186002C>T",
        "CM000664.1:g.128186002C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 127902472,
          "referenceAllele": "C",
          "start": 127902471
        }
      ],
      "hgvs": [
        "NC_000002.10:g.127902472C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15007,
          "referenceAllele": "C",
          "start": 15006
        }
      ],
      "hgvs": [
        "NG_016323.1:g.15007C>T",
        "LRG_599:g.15007C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003093"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "ENST00000234071.8:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234071.4:p.Pro289Leu",
        "hgvsWellDefined": "ENSP00000234071.4:p.Pro289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740940",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234071.8:c.866C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000312.4:c.866C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234071.4:p.Pro289Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000303.1:p.Pro289Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "ENST00000234071.7:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234071.3:p.Pro289Leu",
        "hgvsWellDefined": "ENSP00000234071.3:p.Pro289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "C",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "ENST00000402125.2:c.190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "ENST00000409048.1:c.968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386679.1:p.Pro323Leu",
        "hgvsWellDefined": "ENSP00000386679.1:p.Pro323Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111772",
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_000312.3:c.866C>T",
        "LRG_599t1:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000303.1:p.Pro289Leu",
        "hgvsWellDefined": "NP_000303.1:p.Pro289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "XM_005263715.3:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263772.1:p.Pro350Leu",
        "hgvsWellDefined": "XP_005263772.1:p.Pro350Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "XM_005263716.3:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263773.1:p.Pro344Leu",
        "hgvsWellDefined": "XP_005263773.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "XM_005263717.3:c.929C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263774.1:p.Pro310Leu",
        "hgvsWellDefined": "XP_005263774.1:p.Pro310Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "endIntronDirection": "-",
          "endIntronOffset": 161,
          "referenceAllele": "G",
          "start": 1331,
          "startIntronDirection": "-",
          "startIntronOffset": 162
        }
      ],
      "hgvs": [
        "XR_923313.1:n.1332-162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "XM_005263717.4:c.929C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263774.1:p.Pro310Leu",
        "hgvsWellDefined": "XP_005263774.1:p.Pro310Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "XM_017004505.1:c.1109C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859994.1:p.Pro370Leu",
        "hgvsWellDefined": "XP_016859994.1:p.Pro370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "XM_024453002.1:c.1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308770.1:p.Pro404Leu",
        "hgvsWellDefined": "XP_024308770.1:p.Pro404Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "XM_024453003.1:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308771.1:p.Pro384Leu",
        "hgvsWellDefined": "XP_024308771.1:p.Pro384Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1104,
          "referenceAllele": "C",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "XM_024453004.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308772.1:p.Pro350Leu",
        "hgvsWellDefined": "XP_024308772.1:p.Pro350Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "XM_024453005.1:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308773.1:p.Pro344Leu",
        "hgvsWellDefined": "XP_024308773.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1056,
          "referenceAllele": "C",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "XM_024453006.1:c.968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308774.1:p.Pro323Leu",
        "hgvsWellDefined": "XP_024308774.1:p.Pro323Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3606,
          "endIntronDirection": "-",
          "endIntronOffset": 161,
          "referenceAllele": "G",
          "start": 3606,
          "startIntronDirection": "-",
          "startIntronOffset": 162
        }
      ],
      "hgvs": [
        "XR_001739705.1:n.3607-162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4042,
          "endIntronDirection": "-",
          "endIntronOffset": 161,
          "referenceAllele": "G",
          "start": 4042,
          "startIntronDirection": "-",
          "startIntronOffset": 162
        }
      ],
      "hgvs": [
        "XR_923313.2:n.4043-162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111772",
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_000312.4:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000303.1:p.Pro289Leu",
        "hgvsWellDefined": "NP_000303.1:p.Pro289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674786",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234071.8:c.866C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000312.4:c.866C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234071.4:p.Pro289Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000303.1:p.Pro289Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828620412",
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "C",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375602.1:c.1049C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362531.1:p.Pro350Leu",
        "hgvsWellDefined": "NP_001362531.1:p.Pro350Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828620704",
      "coordinates": [
        {
          "allele": "T",
          "end": 1051,
          "referenceAllele": "C",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375603.1:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362532.1:p.Pro344Leu",
        "hgvsWellDefined": "NP_001362532.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828620988",
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "C",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375604.1:c.929C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362533.1:p.Pro310Leu",
        "hgvsWellDefined": "NP_001362533.1:p.Pro310Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828621274",
      "coordinates": [
        {
          "allele": "T",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375605.1:c.968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362534.1:p.Pro323Leu",
        "hgvsWellDefined": "NP_001362534.1:p.Pro323Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828621561",
      "coordinates": [
        {
          "allele": "T",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375606.1:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362535.1:p.Pro345Leu",
        "hgvsWellDefined": "NP_001362535.1:p.Pro345Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573073854",
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375607.1:c.1052C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362536.1:p.Pro351Leu",
        "hgvsWellDefined": "NP_001362536.1:p.Pro351Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828621940",
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375608.1:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362537.1:p.Pro270Leu",
        "hgvsWellDefined": "NP_001362537.1:p.Pro270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828622208",
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375609.1:c.842C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362538.1:p.Pro281Leu",
        "hgvsWellDefined": "NP_001362538.1:p.Pro281Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828622482",
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375610.1:c.860C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362539.1:p.Pro287Leu",
        "hgvsWellDefined": "NP_001362539.1:p.Pro287Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828622760",
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375611.1:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362540.1:p.Pro289Leu",
        "hgvsWellDefined": "NP_001362540.1:p.Pro289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693705"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828623072",
      "coordinates": [
        {
          "allele": "T",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375613.1:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362542.1:p.Pro289Leu",
        "hgvsWellDefined": "NP_001362542.1:p.Pro289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693707"
    }
  ],
  "type": "nucleotide"
}