ClinGen Allele Registry
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Canonical Allele Identifier:
CA326251747
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17913453
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrX:g.5266661C>T
GRCh37
chrX:g.5184702C>T
Linked Data - Sequence & Population
gnomAD v2:
X:5184702 C / T
gnomAD v3:
X:5266661 C / T
gnomAD v4:
chrX-5266661-C-T
Joint Max Group AF
0.72986425 (AFR)
Genomes Max Group AF
0.72986425 (AFR)
Linked Data - NCBI & NCI
dbSNP:
6638512
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.5266661C>T , CM000685.2:g.5266661C>T
GRCh38
NC_000023.10:g.5184702C>T , CM000685.1:g.5184702C>T
GRCh37
NC_000023.9:g.5194702C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'