ClinGen Allele Registry
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Canonical Allele Identifier:
CA11360145
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.46502127C>A
GRCh37
chr3:g.46543617C>A
Linked Data - Sequence & Population
gnomAD v2:
3:46543617 C / A
gnomAD v3:
3:46502127 C / A
gnomAD v4:
chr3-46502127-C-A
Joint Max Group AF
0.46697175 (EAS)
Genomes Max Group AF
0.46697175 (EAS)
Linked Data - NCBI & NCI
dbSNP:
10514713
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.46502127C>A , CM000665.2:g.46502127C>A
GRCh38
NC_000003.11:g.46543617C>A , CM000665.1:g.46543617C>A
GRCh37
NC_000003.10:g.46518621C>A
NCBI36
Search 100 bp 5'
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