ClinGen Allele Registry
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Canonical Allele Identifier:
CA2696841
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.169765071C>T
GRCh37
chr3:g.169482859C>T
Linked Data - Sequence & Population
gnomAD v2:
3:169482859 C / T
gnomAD v3:
3:169765071 C / T
gnomAD v4:
chr3-169765071-C-T
Joint Max Group AF
0.00030981 (NFE)
Genomes Max Group AF
0.0002554 (NFE)
Exomes Max Group AF
0.00030414 (NFE)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001819288
ClinVar Variation:
1336802
dbSNP:
192691719
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169765071C>T , CM000665.2:g.169765071C>T
GRCh38
NC_000003.11:g.169482859C>T , CM000665.1:g.169482859C>T
GRCh37
NC_000003.10:g.170965553C>T
NCBI36
NG_016363.1:g.4990G>A , LRG_347:g.4990G>A
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