ClinGen Allele Registry
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Canonical Allele Identifier:
CA13754682
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17138481 (not active)
COSN17142289 (not active)
COSN17146071 (not active)
COSN17150549 (not active)
COSN17152535 (not active)
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr12:g.52880120G>A
GRCh37
chr12:g.53273904G>A
Linked Data - Sequence & Population
gnomAD v2:
12:53273904 G / A
gnomAD v3:
12:52880120 G / A
gnomAD v4:
chr12-52880120-G-A
Joint Max Group AF
0.14322895 (NFE)
Genomes Max Group AF
0.14322895 (NFE)
Linked Data - NCBI & NCI
dbSNP:
902774
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52880120G>A , CM000674.2:g.52880120G>A
GRCh38
NC_000012.11:g.53273904G>A , CM000674.1:g.53273904G>A
GRCh37
NC_000012.10:g.51560171G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'