{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA019812", "communityStandardTitle": [ "NM_000335.5(SCN5A):c.80G>A (p.Arg27His)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5791129", "active": true, "id": "COSM5791129" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5791130", "active": true, "id": "COSM5791130" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5791131", "active": true, "id": "COSM5791131" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78934[alleleid]", "alleleId": 78934, "preferredName": "NM_000335.5(SCN5A):c.80G>A (p.Arg27His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68043", "RCV": [ "RCV000058846", "RCV000234990", "RCV000713149", "RCV000987245", "RCV001842412", "RCV002415517" ], "variationId": 68043 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-38674719-C-T", "id": "3-38674719-C-T", "variant": "3:38674719 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.38674719C>T?assembly=hg19", "id": "chr3:g.38674719C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.38633228C>T?assembly=hg38", "id": "chr3:g.38633228C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199473045", "rs": 199473045 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-38674719-C-T?dataset=gnomad_r2_1", "id": "3-38674719-C-T", "variant": "3:38674719 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-38633228-C-T?dataset=gnomad_r3", "id": "3-38633228-C-T", "variant": "3:38633228 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-38633228-C-T?dataset=gnomad_r4", "id": "3-38633228-C-T", "variant": "3:38633228 C / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 38633228, "referenceAllele": "C", "start": 38633227 } ], "hgvs": [ "NC_000003.12:g.38633228C>T", "CM000665.2:g.38633228C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 38674719, "referenceAllele": "C", "start": 38674718 } ], "hgvs": [ "NC_000003.11:g.38674719C>T", "CM000665.1:g.38674719C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 38649723, "referenceAllele": "C", "start": 38649722 } ], "hgvs": [ "NC_000003.10:g.38649723C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 21445, "referenceAllele": "G", "start": 21444 } ], "hgvs": [ "NG_008934.1:g.21445G>A", "LRG_289:g.21445G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001312" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000327956.7:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000333674.7:p.Arg27His", "hgvsWellDefined": "ENSP00000333674.7:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS913961" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000333535.9:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000328968.4:p.Arg27His", "hgvsWellDefined": "ENSP00000328968.4:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS747320" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000413689.6:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000410257.1:p.Arg27His", "hgvsWellDefined": "ENSP00000410257.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS754540", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000413689.6:c.80G>A" }, "RefSeq": { "hgvs": "NM_001099404.2:c.80G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000410257.1:p.Arg27His" }, "RefSeq": { "hgvs": "NP_001092874.1:p.Arg27His" } } } }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000423572.7:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000398266.2:p.Arg27His", "hgvsWellDefined": "ENSP00000398266.2:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS754985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000423572.7:c.80G>A" }, "RefSeq": { "hgvs": "NM_000335.5:c.80G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000398266.2:p.Arg27His" }, "RefSeq": { "hgvs": "NP_000326.2:p.Arg27His" } } } }, { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000327956.6:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000333674.6:p.Arg27His", "hgvsWellDefined": "ENSP00000333674.6:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247396" }, { "coordinates": [ { "allele": "A", "end": 230, "referenceAllele": "G", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000333535.8:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000328968.4:p.Arg27His", "hgvsWellDefined": "ENSP00000328968.4:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247329" }, { "coordinates": [ { "allele": "A", "end": 274, "referenceAllele": "G", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000413689.5:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000410257.1:p.Arg27His", "hgvsWellDefined": "ENSP00000410257.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247165" }, { "coordinates": [ { "allele": "A", "end": 122, "referenceAllele": "G", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000414099.6:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000398962.2:p.Arg27His", "hgvsWellDefined": "ENSP00000398962.2:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247373" }, { "coordinates": [ { "allele": "A", "end": 135, "referenceAllele": "G", "start": 134 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000423572.6:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000398266.2:p.Arg27His", "hgvsWellDefined": "ENSP00000398266.2:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247184" }, { "coordinates": [ { "allele": "A", "end": 274, "referenceAllele": "G", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000425664.5:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000416634.1:p.Arg27His", "hgvsWellDefined": "ENSP00000416634.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS246629" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000449557.6:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000413996.2:p.Arg27His", "hgvsWellDefined": "ENSP00000413996.2:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247361" }, { "coordinates": [ { "allele": "A", "end": 122, "referenceAllele": "G", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000450102.6:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000403355.2:p.Arg27His", "hgvsWellDefined": "ENSP00000403355.2:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247217" }, { "coordinates": [ { "allele": "A", "end": 275, "referenceAllele": "G", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000451551.6:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000388797.2:p.Arg27His", "hgvsWellDefined": "ENSP00000388797.2:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247201" }, { "coordinates": [ { "allele": "A", "end": 105, "referenceAllele": "G", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000455624.6:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000399524.2:p.Arg27His", "hgvsWellDefined": "ENSP00000399524.2:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247378" }, { "coordinates": [ { "allele": "A", "end": 275, "referenceAllele": "G", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000491944.1:n.275G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329443" }, { "coordinates": [ { "allele": "A", "end": 122, "referenceAllele": "G", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "ENST00000612060.1:c.80G>A" ], "proteinEffect": { "hgvs": "ENSP00000479016.1:p.Arg27His", "hgvsWellDefined": "ENSP00000479016.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS401138" }, { "@id": "http://reg.genome.network/allele/PA307090", "coordinates": [ { "allele": "A", "end": 274, "referenceAllele": "G", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_000335.4:c.80G>A", "LRG_289t2:c.80G>A" ], "proteinEffect": { "hgvs": "NP_000326.2:p.Arg27His", "hgvsWellDefined": "NP_000326.2:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006398" }, { "@id": "http://reg.genome.network/allele/PA307091", "coordinates": [ { "allele": "A", "end": 274, "referenceAllele": "G", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099404.1:c.80G>A", "LRG_289t3:c.80G>A" ], "proteinEffect": { "hgvs": "NP_001092874.1:p.Arg27His", "hgvsWellDefined": "NP_001092874.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010738" }, { "@id": "http://reg.genome.network/allele/PA2825491842", "coordinates": [ { "allele": "A", "end": 274, "referenceAllele": "G", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099405.1:c.80G>A" ], "proteinEffect": { "hgvs": "NP_001092875.1:p.Arg27His", "hgvsWellDefined": "NP_001092875.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010739" }, { "@id": "http://reg.genome.network/allele/PA2825939946", "coordinates": [ { "allele": "A", "end": 275, "referenceAllele": "G", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160160.1:c.80G>A" ], "proteinEffect": { "hgvs": "NP_001153632.1:p.Arg27His", "hgvsWellDefined": "NP_001153632.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS014136" }, { "@id": "http://reg.genome.network/allele/PA2825943006", "coordinates": [ { "allele": "A", "end": 275, "referenceAllele": "G", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160161.1:c.80G>A" ], "proteinEffect": { "hgvs": "NP_001153633.1:p.Arg27His", "hgvsWellDefined": "NP_001153633.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS014137" }, { "@id": "http://reg.genome.network/allele/PA107466", "coordinates": [ { "allele": "A", "end": 274, "referenceAllele": "G", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_198056.2:c.80G>A", "LRG_289t1:c.80G>A" ], "proteinEffect": { "hgvs": "NP_932173.1:p.Arg27His", "hgvsWellDefined": "NP_932173.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS044407" }, { "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "G", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_006713282.2:c.80G>A" ], "proteinEffect": { "hgvs": "XP_006713345.1:p.Arg27His", "hgvsWellDefined": "XP_006713345.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS070082" }, { "coordinates": [ { "allele": "A", "end": 269, "referenceAllele": "G", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_011533991.1:c.80G>A" ], "proteinEffect": { "hgvs": "XP_011532293.1:p.Arg27His", "hgvsWellDefined": "XP_011532293.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS101009" }, { "coordinates": [ { "allele": "A", "end": 187, "referenceAllele": "G", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_011533992.1:c.80G>A" ], "proteinEffect": { "hgvs": "XP_011532294.1:p.Arg27His", "hgvsWellDefined": "XP_011532294.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS101010" }, { "@id": "http://reg.genome.network/allele/PA2827921200", "coordinates": [ { "allele": "A", "end": 275, "referenceAllele": "G", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001354701.1:c.80G>A" ], "proteinEffect": { "hgvs": "NP_001341630.1:p.Arg27His", "hgvsWellDefined": "NP_001341630.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522627" }, { "coordinates": [ { "allele": "A", "end": 269, "referenceAllele": "G", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_011533991.2:c.80G>A" ], "proteinEffect": { "hgvs": "XP_011532293.1:p.Arg27His", "hgvsWellDefined": "XP_011532293.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS551456" }, { "coordinates": [ { "allele": "A", "end": 269, "referenceAllele": "G", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "XM_017007017.1:c.80G>A" ], "proteinEffect": { "hgvs": "XP_016862506.1:p.Arg27His", "hgvsWellDefined": "XP_016862506.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS561890" }, { "@id": "http://reg.genome.network/allele/PA307090", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_000335.5:c.80G>A" ], "proteinEffect": { "hgvs": "NP_000326.2:p.Arg27His", "hgvsWellDefined": "NP_000326.2:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674795", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000423572.7:c.80G>A" }, "RefSeq": { "hgvs": "NM_000335.5:c.80G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000398266.2:p.Arg27His" }, "RefSeq": { "hgvs": "NP_000326.2:p.Arg27His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825939946", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160160.2:c.80G>A" ], "proteinEffect": { "hgvs": "NP_001153632.1:p.Arg27His", "hgvsWellDefined": "NP_001153632.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS678128" }, { "@id": "http://reg.genome.network/allele/PA2827921200", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001354701.2:c.80G>A" ], "proteinEffect": { "hgvs": "NP_001341630.1:p.Arg27His", "hgvsWellDefined": "NP_001341630.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690293" }, { "@id": "http://reg.genome.network/allele/PA307091", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099404.2:c.80G>A" ], "proteinEffect": { "hgvs": "NP_001092874.1:p.Arg27His", "hgvsWellDefined": "NP_001092874.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711956", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000413689.6:c.80G>A" }, "RefSeq": { "hgvs": "NM_001099404.2:c.80G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000410257.1:p.Arg27His" }, "RefSeq": { "hgvs": "NP_001092874.1:p.Arg27His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825491842", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001099405.2:c.80G>A" ], "proteinEffect": { "hgvs": "NP_001092875.1:p.Arg27His", "hgvsWellDefined": "NP_001092875.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711957" }, { "@id": "http://reg.genome.network/allele/PA2825943006", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_001160161.2:c.80G>A" ], "proteinEffect": { "hgvs": "NP_001153633.1:p.Arg27His", "hgvsWellDefined": "NP_001153633.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS712964" }, { "@id": "http://reg.genome.network/allele/PA107466", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010593", "geneNCBI_id": 6331, "geneSymbol": "SCN5A", "hgvs": [ "NM_198056.3:c.80G>A" ], "proteinEffect": { "hgvs": "NP_932173.1:p.Arg27His", "hgvsWellDefined": "NP_932173.1:p.Arg27His" }, "referenceSequence": "http://reg.genome.network/refseq/RS729873" } ], "type": "nucleotide" }