ClinGen Allele Registry
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Canonical Allele Identifier:
CA70145206
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.12248301A>G
GRCh37
chr3:g.12289800A>G
Linked Data - Sequence & Population
gnomAD v2:
3:12289800 A / G
gnomAD v3:
3:12248301 A / G
gnomAD v4:
chr3-12248301-A-G
Joint Max Group AF
0.06878769 (SAS)
Genomes Max Group AF
0.06878769 (SAS)
Linked Data - NCBI & NCI
dbSNP:
13081389
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.12248301A>G , CM000665.2:g.12248301A>G
GRCh38
NC_000003.11:g.12289800A>G , CM000665.1:g.12289800A>G
GRCh37
NC_000003.10:g.12264800A>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'