ClinGen Allele Registry
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Canonical Allele Identifier:
CA121578
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrX:g.129736814C>A
GRCh37
chrX:g.128870791C>A
Linked Data - Sequence & Population
gnomAD v2:
X:128870791 C / A
gnomAD v3:
X:129736814 C / A
gnomAD v4:
chrX-129736814-C-A
Joint Max Group AF
0.2335204 (AFR)
Genomes Max Group AF
0.2335204 (AFR)
Linked Data - NCBI & NCI
ClinVar Allele:
26606
ClinVar RCV:
RCV000012323
ClinVar Variation:
11567
dbSNP:
3788853
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.129736814C>A , CM000685.2:g.129736814C>A
GRCh38
NC_000023.10:g.128870791C>A , CM000685.1:g.128870791C>A
GRCh37
NC_000023.9:g.128698472C>A
NCBI36
NG_011479.1:g.2846C>A
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