ClinGen Allele Registry
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Canonical Allele Identifier:
CA112916438
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.1296306C>G
GRCh37
chr5:g.1296421C>G
Linked Data - Sequence & Population
gnomAD v3:
5:1296306 C / G
gnomAD v4:
chr5-1296306-C-G
Joint Max Group AF
0.00002846 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Linked Data - NCBI & NCI
dbSNP:
36081204
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1296306C>G , CM000667.2:g.1296306C>G
GRCh38
NC_000005.9:g.1296421C>G , CM000667.1:g.1296421C>G
GRCh37
NC_000005.8:g.1349421C>G
NCBI36
NG_009265.1:g.3742G>C , LRG_343:g.3742G>C
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