ClinGen Allele Registry
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Canonical Allele Identifier:
CA14388589
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.78213673T>C
GRCh37
chr17:g.76209754T>C
Linked Data - Sequence & Population
gnomAD v2:
17:76209754 T / C
gnomAD v3:
17:78213673 T / C
gnomAD v4:
chr17-78213673-T-C
Joint Max Group AF
0.50613785 (AFR)
Genomes Max Group AF
0.50613785 (AFR)
Linked Data - NCBI & NCI
dbSNP:
8073903
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.78213673T>C , CM000679.2:g.78213673T>C
GRCh38
NC_000017.10:g.76209754T>C , CM000679.1:g.76209754T>C
GRCh37
NC_000017.9:g.73721349T>C
NCBI36
NG_029069.1:g.4478T>C
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