ClinGen Allele Registry
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Canonical Allele Identifier:
CA16007448
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrX:g.43654798G>A
GRCh37
chrX:g.43514046G>A
Linked Data - Sequence & Population
gnomAD v2:
X:43514046 G / A
gnomAD v3:
X:43654798 G / A
gnomAD v4:
chrX-43654798-G-A
Joint Max Group AF
0.73188643 (AFR)
Genomes Max Group AF
0.73190213 (AFR)
Exomes Max Group AF
0.56057172 (NFE)
Linked Data - NCBI & NCI
dbSNP:
5953210
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.43654798G>A , CM000685.2:g.43654798G>A
GRCh38
NC_000023.10:g.43514046G>A , CM000685.1:g.43514046G>A
GRCh37
NC_000023.9:g.43398990G>A
NCBI36
NG_008957.2:g.3638G>A
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