ClinGen Allele Registry
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Canonical Allele Identifier:
CA87624635
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.169765061G>A
GRCh37
chr3:g.169482849G>A
Linked Data - Sequence & Population
gnomAD v2:
3:169482849 G / A
gnomAD v3:
3:169765061 G / A
gnomAD v4:
chr3-169765061-G-A
Joint Max Group AF
0.00000697 (NFE)
Exomes Max Group AF
0.00000717 (NFE)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003391289
ClinVar Variation:
2629903
dbSNP:
761839657
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169765061G>A , CM000665.2:g.169765061G>A
GRCh38
NC_000003.11:g.169482849G>A , CM000665.1:g.169482849G>A
GRCh37
NC_000003.10:g.170965543G>A
NCBI36
NG_016363.1:g.5000C>T , LRG_347:g.5000C>T
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