ClinGen Allele Registry
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Canonical Allele Identifier:
CA21833203
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.45329101C>A
GRCh37
chr1:g.45794773C>A
Linked Data - Sequence & Population
gnomAD v2:
1:45794773 C / A
gnomAD v3:
1:45329101 C / A
gnomAD v4:
chr1-45329101-C-A
Joint Max Group AF
0.00073668 (EAS)
Genomes Max Group AF
0.00119311 (EAS)
Exomes Max Group AF
0.00054678 (EAS)
Linked Data - NCBI & NCI
dbSNP:
566064802
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.45329101C>A , CM000663.2:g.45329101C>A
GRCh38
NC_000001.10:g.45794773C>A , CM000663.1:g.45794773C>A
GRCh37
NC_000001.9:g.45567360C>A
NCBI36
NG_008189.1:g.16370G>T , LRG_220:g.16370G>T
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