ClinGen Allele Registry
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Canonical Allele Identifier:
CA695165242
Gene: SOX1-OT
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr13:g.111997186C>G
GRCh37
chr13:g.112651500C>G
Linked Data - NCBI & NCI
dbSNP:
726455
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.111997186C>G , CM000675.2:g.111997186C>G
GRCh38
NC_000013.10:g.112651500C>G , CM000675.1:g.112651500C>G
GRCh37
NC_000013.9:g.111699501C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_120392.1:n.84+24793C>G
Search 100 bp 5'
Search 100 bp 3'