ClinGen Allele Registry
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Canonical Allele Identifier:
CA329460032
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrX:g.43647287T>C
GRCh37
chrX:g.43506535T>C
Linked Data - Sequence & Population
gnomAD v2:
X:43506535 T / C
gnomAD v3:
X:43647287 T / C
gnomAD v4:
chrX-43647287-T-C
Joint Max Group AF
0.97325512 (AFR)
Genomes Max Group AF
0.97325512 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1181275
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.43647287T>C , CM000685.2:g.43647287T>C
GRCh38
NC_000023.10:g.43506535T>C , CM000685.1:g.43506535T>C
GRCh37
NC_000023.9:g.43391479T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'