ClinGen Allele Registry
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Canonical Allele Identifier:
CA12772147
Gene:
Linked Data - Expert Curation
COSMIC:
COSN24713115 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.109205037T>C
GRCh37
chr8:g.110217266T>C
Linked Data - Sequence & Population
gnomAD v2:
8:110217266 T / C
gnomAD v3:
8:109205037 T / C
gnomAD v4:
chr8-109205037-T-C
Joint Max Group AF
0.61336332 (AFR)
Genomes Max Group AF
0.61336332 (AFR)
Linked Data - NCBI & NCI
dbSNP:
7823896
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.109205037T>C , CM000670.2:g.109205037T>C
GRCh38
NC_000008.10:g.110217266T>C , CM000670.1:g.110217266T>C
GRCh37
NC_000008.9:g.110286442T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'