ClinGen Allele Registry
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Canonical Allele Identifier:
CA11929752
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17133428 (not active)
COSN17137958 (not active)
COSN17142894 (not active)
COSN17145486 (not active)
COSN17148207 (not active)
COSN17150877 (not active)
COSN17151967 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.56727256T>G
GRCh37
chr5:g.56023083T>G
Linked Data - Sequence & Population
gnomAD v2:
5:56023083 T / G
gnomAD v3:
5:56727256 T / G
gnomAD v4:
chr5-56727256-T-G
Joint Max Group AF
0.34051252 (EAS)
Genomes Max Group AF
0.34051252 (EAS)
Linked Data - NCBI & NCI
dbSNP:
16886165
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.56727256T>G , CM000667.2:g.56727256T>G
GRCh38
NC_000005.9:g.56023083T>G , CM000667.1:g.56023083T>G
GRCh37
NC_000005.8:g.56058840T>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'