ClinGen Allele Registry
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Canonical Allele Identifier:
CA243904415
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17141828 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.108373556C>A
GRCh37
chr12:g.108767333C>A
Linked Data - Sequence & Population
gnomAD v2:
12:108767333 C / A
gnomAD v3:
12:108373556 C / A
gnomAD v4:
chr12-108373556-C-A
Joint Max Group AF
0.33134981 (EAS)
Genomes Max Group AF
0.33134981 (EAS)
Linked Data - NCBI & NCI
dbSNP:
10861905
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.108373556C>A , CM000674.2:g.108373556C>A
GRCh38
NC_000012.11:g.108767333C>A , CM000674.1:g.108767333C>A
GRCh37
NC_000012.10:g.107291463C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'