ClinGen Allele Registry
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Canonical Allele Identifier:
CA548332331
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.169765064G>C
GRCh37
chr3:g.169482852G>C
Linked Data - Sequence & Population
gnomAD v2:
3:169482852 G / C
gnomAD v4:
chr3-169765064-G-C
Joint Max Group AF
8e-7 (NFE)
Exomes Max Group AF
9.5e-7 (NFE)
Linked Data - NCBI & NCI
dbSNP:
778206799
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169765064G>C , CM000665.2:g.169765064G>C
GRCh38
NC_000003.11:g.169482852G>C , CM000665.1:g.169482852G>C
GRCh37
NC_000003.10:g.170965546G>C
NCBI36
NG_016363.1:g.4997C>G , LRG_347:g.4997C>G
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