ClinGen Allele Registry
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Canonical Allele Identifier:
CA16540126
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.47748134A>G
GRCh37
chr17:g.45825500A>G
Linked Data - Sequence & Population
gnomAD v2:
17:45825500 A / G
gnomAD v3:
17:47748134 A / G
gnomAD v4:
chr17-47748134-A-G
Joint Max Group AF
0.24429899 (MID)
Genomes Max Group AF
0.21171379 (NFE)
Linked Data - NCBI & NCI
dbSNP:
16947078
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.47748134A>G , CM000679.2:g.47748134A>G
GRCh38
NC_000017.10:g.45825500A>G , CM000679.1:g.45825500A>G
GRCh37
NC_000017.9:g.43180499A>G
NCBI36
Search 100 bp 5'
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