{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2372713600",
  "communityStandardTitle": [
    "NM_207034.3(EDN3):c.373G= (p.Val125=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34604265",
        "rs": 34604265
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 59321024,
          "referenceAllele": "G",
          "start": 59321023
        }
      ],
      "hgvs": [
        "NC_000020.11:g.59321024G=",
        "CM000682.2:g.59321024G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 57896079,
          "referenceAllele": "G",
          "start": 57896078
        }
      ],
      "hgvs": [
        "NC_000020.10:g.57896079G=",
        "CM000682.1:g.57896079G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 57329474,
          "referenceAllele": "G",
          "start": 57329473
        }
      ],
      "hgvs": [
        "NC_000020.9:g.57329474G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25581,
          "referenceAllele": "G",
          "start": 25580
        }
      ],
      "hgvs": [
        "NG_008050.1:g.25581G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000806"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000337938.7:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337128.2:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337938.7:c.373G="
          },
          "RefSeq": {
            "hgvs": "NM_207034.3:c.373G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337128.2:p.Val125="
          },
          "RefSeq": {
            "hgvs": "NP_996917.1:p.Val125="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000644821.1:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493472.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000671744.1:n.1014G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "referenceAllele": "G",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000672969.1:c.210G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000311585.11:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311854.7:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000337938.6:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337128.2:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 568,
          "referenceAllele": "G",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000371025.7:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360064.3:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 742,
          "referenceAllele": "G",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000371028.6:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360067.2:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "referenceAllele": "G",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "ENST00000395654.3:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379015.3:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826869747",
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_001302455.1:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289384.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826869868",
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_001302456.1:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289385.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830525090",
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207032.2:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "NP_996915.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830525160",
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207033.2:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "NP_996916.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830525214",
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207034.2:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "NP_996917.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_005260312.3:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260369.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_005260313.3:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260370.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_006723734.2:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723797.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_011528655.1:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526957.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XR_936513.1:n.762G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_005260312.4:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260369.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_005260313.5:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260370.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_006723734.3:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723797.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_011528655.2:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526957.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_024451847.1:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307615.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XM_024451848.1:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307616.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XR_002958461.1:n.771G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XR_002958462.1:n.771G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "XR_936513.2:n.770G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830525214",
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207034.3:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "NP_996917.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673277",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337938.7:c.373G="
          },
          "RefSeq": {
            "hgvs": "NM_207034.3:c.373G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337128.2:p.Val125="
          },
          "RefSeq": {
            "hgvs": "NP_996917.1:p.Val125="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826869747",
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_001302455.2:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289384.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826869868",
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_001302456.2:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289385.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830525090",
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207032.3:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "NP_996915.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830525160",
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003178",
      "geneNCBI_id": 1908,
      "geneSymbol": "EDN3",
      "hgvs": [
        "NM_207033.3:c.373G="
      ],
      "proteinEffect": {
        "hgvs": "NP_996916.1:p.Val125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701721"
    }
  ],
  "type": "nucleotide"
}