This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier:
CA532704904
Gene:
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000394 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000133 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47402900A>T , CM000664.2:g.47402900A>T | GRCh38 |
| NC_000002.11:g.47630039A>T , CM000664.1:g.47630039A>T | GRCh37 |
| NC_000002.10:g.47483543A>T | NCBI36 |
| NG_007110.2:g.4777A>T , LRG_218:g.4777A>T |