ClinGen Allele Registry
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Canonical Allele Identifier:
CA240138023
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.84849902A>C
GRCh37
chr12:g.85243681A>C
Linked Data - Sequence & Population
gnomAD v2:
12:85243681 A / C
gnomAD v3:
12:84849902 A / C
gnomAD v4:
chr12-84849902-A-C
Joint Max Group AF
0.01912304 (EAS)
Genomes Max Group AF
0.01912304 (EAS)
Linked Data - NCBI & NCI
dbSNP:
6539870
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.84849902A>C , CM000674.2:g.84849902A>C
GRCh38
NC_000012.11:g.85243681A>C , CM000674.1:g.85243681A>C
GRCh37
NC_000012.10:g.83767812A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'