ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA689593766
Gene:
Linked Data
dbSNP Id:
rs1458228871
gnomAD v3:
12-49282216-G-A
gnomAD v4:
12-49282216-G-A
MyVariant Identifiers:
chr12:g.49675999G>A (hg19)
chr12:g.49282216G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.49282216G>A , CM000674.2:g.49282216G>A
GRCh38
NC_000012.11:g.49675999G>A , CM000674.1:g.49675999G>A
GRCh37
NC_000012.10:g.47962266G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'