ClinGen Allele Registry
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Canonical Allele Identifier:
CA112916491
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.1296376G>T
GRCh37
chr5:g.1296491G>T
Linked Data - Sequence & Population
gnomAD v3:
5:1296376 G / T
gnomAD v4:
chr5-1296376-G-T
Joint Max Group AF
0.00001919 (AFR)
Genomes Max Group AF
0.00001919 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1043261059
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1296376G>T , CM000667.2:g.1296376G>T
GRCh38
NC_000005.9:g.1296491G>T , CM000667.1:g.1296491G>T
GRCh37
NC_000005.8:g.1349491G>T
NCBI36
NG_009265.1:g.3672C>A , LRG_343:g.3672C>A
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