ClinGen Allele Registry
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Canonical Allele Identifier:
CA548332329
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.169765062G>C
GRCh37
chr3:g.169482850G>C
Linked Data - Sequence & Population
gnomAD v2:
3:169482850 G / C
gnomAD v3:
3:169765062 G / C
gnomAD v4:
chr3-169765062-G-C
Joint Max Group AF
0.00002558 (SAS)
Exomes Max Group AF
0.00002794 (SAS)
Linked Data - NCBI & NCI
dbSNP:
765614116
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169765062G>C , CM000665.2:g.169765062G>C
GRCh38
NC_000003.11:g.169482850G>C , CM000665.1:g.169482850G>C
GRCh37
NC_000003.10:g.170965544G>C
NCBI36
NG_016363.1:g.4999C>G , LRG_347:g.4999C>G
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