{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1624187143",
  "communityStandardTitle": [
    "NM_000322.5(PRPH2):c.136C= (p.Arg46=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61755771",
        "rs": 61755771
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 42722199,
          "referenceAllele": "G",
          "start": 42722198
        }
      ],
      "hgvs": [
        "NC_000006.12:g.42722199G=",
        "CM000668.2:g.42722199G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 42689937,
          "referenceAllele": "G",
          "start": 42689936
        }
      ],
      "hgvs": [
        "NC_000006.11:g.42689937G=",
        "CM000668.1:g.42689937G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 42797915,
          "referenceAllele": "G",
          "start": 42797914
        }
      ],
      "hgvs": [
        "NC_000006.10:g.42797915G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5422,
          "referenceAllele": "C",
          "start": 5421
        }
      ],
      "hgvs": [
        "NG_009176.1:g.5422C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001465"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5422,
          "referenceAllele": "C",
          "start": 5421
        }
      ],
      "hgvs": [
        "NG_009176.2:g.5422C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673521"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009942",
      "geneNCBI_id": 5961,
      "geneSymbol": "PRPH2",
      "hgvs": [
        "ENST00000230381.7:c.136C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230381.5:p.Arg46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740829",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230381.7:c.136C="
          },
          "RefSeq": {
            "hgvs": "NM_000322.5:c.136C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230381.5:p.Arg46="
          },
          "RefSeq": {
            "hgvs": "NP_000313.2:p.Arg46="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009942",
      "geneNCBI_id": 5961,
      "geneSymbol": "PRPH2",
      "hgvs": [
        "ENST00000230381.6:c.136C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230381.5:p.Arg46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072139281",
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009942",
      "geneNCBI_id": 5961,
      "geneSymbol": "PRPH2",
      "hgvs": [
        "NM_000322.4:c.136C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000313.2:p.Arg46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009942",
      "geneNCBI_id": 5961,
      "geneSymbol": "PRPH2",
      "hgvs": [
        "XR_427834.2:n.791C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009942",
      "geneNCBI_id": 5961,
      "geneSymbol": "PRPH2",
      "hgvs": [
        "XR_926295.1:n.791C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009942",
      "geneNCBI_id": 5961,
      "geneSymbol": "PRPH2",
      "hgvs": [
        "XR_427834.4:n.841C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009942",
      "geneNCBI_id": 5961,
      "geneSymbol": "PRPH2",
      "hgvs": [
        "XR_926295.3:n.841C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072139281",
      "coordinates": [
        {
          "allele": "C",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009942",
      "geneNCBI_id": 5961,
      "geneSymbol": "PRPH2",
      "hgvs": [
        "NM_000322.5:c.136C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000313.2:p.Arg46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230381.7:c.136C="
          },
          "RefSeq": {
            "hgvs": "NM_000322.5:c.136C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230381.5:p.Arg46="
          },
          "RefSeq": {
            "hgvs": "NP_000313.2:p.Arg46="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}