{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270025",
  "communityStandardTitle": [
    "NM_000539.3(RHO):c.562G>A (p.Gly188Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4983669",
        "active": true,
        "id": "COSM4983669"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152799[alleleid]",
        "alleleId": 152799,
        "preferredName": "NM_000539.3(RHO):c.562G>A (p.Gly188Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143081",
        "RCV": [
          "RCV000132600",
          "RCV001384606",
          "RCV003888544"
        ],
        "variationId": 143081
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.129251125G>A?assembly=hg19",
        "id": "chr3:g.129251125G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.129532282G>A?assembly=hg38",
        "id": "chr3:g.129532282G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/527236100",
        "rs": 527236100
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 129532282,
          "referenceAllele": "G",
          "start": 129532281
        }
      ],
      "hgvs": [
        "NC_000003.12:g.129532282G>A",
        "CM000665.2:g.129532282G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 129251125,
          "referenceAllele": "G",
          "start": 129251124
        }
      ],
      "hgvs": [
        "NC_000003.11:g.129251125G>A",
        "CM000665.1:g.129251125G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 130733815,
          "referenceAllele": "G",
          "start": 130733814
        }
      ],
      "hgvs": [
        "NC_000003.10:g.130733815G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8644,
          "referenceAllele": "G",
          "start": 8643
        }
      ],
      "hgvs": [
        "NG_009115.1:g.8644G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001449"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "ENST00000296271.4:c.562G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296271.3:p.Gly188Arg",
        "hgvsWellDefined": "ENSP00000296271.3:p.Gly188Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296271.4:c.562G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000539.3:c.562G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296271.3:p.Gly188Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000530.1:p.Gly188Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "G",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "ENST00000296271.3:c.562G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296271.3:p.Gly188Arg",
        "hgvsWellDefined": "ENSP00000296271.3:p.Gly188Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104656",
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "NM_000539.3:c.562G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000530.1:p.Gly188Arg",
        "hgvsWellDefined": "NP_000530.1:p.Gly188Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006597",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296271.4:c.562G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000539.3:c.562G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296271.3:p.Gly188Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000530.1:p.Gly188Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}