{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3099985816",
  "communityStandardTitle": [
    "NM_000539.3(RHO):c.946T= (p.Cys316=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793749",
        "rs": 1064793749
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 129533617,
          "referenceAllele": "T",
          "start": 129533616
        }
      ],
      "hgvs": [
        "NC_000003.12:g.129533617T=",
        "CM000665.2:g.129533617T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 129252460,
          "referenceAllele": "T",
          "start": 129252459
        }
      ],
      "hgvs": [
        "NC_000003.11:g.129252460T=",
        "CM000665.1:g.129252460T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 130735150,
          "referenceAllele": "T",
          "start": 130735149
        }
      ],
      "hgvs": [
        "NC_000003.10:g.130735150T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9979,
          "referenceAllele": "T",
          "start": 9978
        }
      ],
      "hgvs": [
        "NG_009115.1:g.9979T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001449"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1041,
          "referenceAllele": "T",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "ENST00000296271.4:c.946T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296271.3:p.Cys316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296271.4:c.946T="
          },
          "RefSeq": {
            "hgvs": "NM_000539.3:c.946T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296271.3:p.Cys316="
          },
          "RefSeq": {
            "hgvs": "NP_000530.1:p.Cys316="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "T",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "ENST00000296271.3:c.946T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296271.3:p.Cys316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825194853",
      "coordinates": [
        {
          "allele": "T",
          "end": 1041,
          "referenceAllele": "T",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "NM_000539.3:c.946T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000530.1:p.Cys316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006597",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296271.4:c.946T="
          },
          "RefSeq": {
            "hgvs": "NM_000539.3:c.946T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296271.3:p.Cys316="
          },
          "RefSeq": {
            "hgvs": "NP_000530.1:p.Cys316="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}