ClinGen Allele Registry
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Canonical Allele Identifier:
CA14996540
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17136871 (not active)
COSN17139702 (not active)
COSN17140558 (not active)
COSN17141393 (not active)
COSN17143618 (not active)
COSN17144525 (not active)
COSN17150822 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr22:g.27456222T>C
GRCh37
chr22:g.27852183T>C
Linked Data - Sequence & Population
gnomAD v2:
22:27852183 T / C
gnomAD v3:
22:27456222 T / C
gnomAD v4:
chr22-27456222-T-C
Joint Max Group AF
0.13545863 (SAS)
Genomes Max Group AF
0.13545863 (SAS)
Linked Data - NCBI & NCI
dbSNP:
6005451
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.27456222T>C , CM000684.2:g.27456222T>C
GRCh38
NC_000022.10:g.27852183T>C , CM000684.1:g.27852183T>C
GRCh37
NC_000022.9:g.26182183T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'