ClinGen Allele Registry
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Canonical Allele Identifier:
CA330919398
Gene:
Linked Data - Expert Curation
COSMIC:
COSN16066135
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrX:g.69578860A>G
GRCh37
chrX:g.68798703A>G
Linked Data - Sequence & Population
gnomAD v2:
X:68798703 A / G
gnomAD v3:
X:69578860 A / G
gnomAD v4:
chrX-69578860-A-G
Joint Max Group AF
0.2330354 (NFE)
Genomes Max Group AF
0.2330354 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11796357
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.69578860A>G , CM000685.2:g.69578860A>G
GRCh38
NC_000023.10:g.68798703A>G , CM000685.1:g.68798703A>G
GRCh37
NC_000023.9:g.68715428A>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'