ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA947443110
Gene:
Linked Data
dbSNP Id:
rs1943079007
gnomAD v3:
12-49282176-A-T
gnomAD v4:
12-49282176-A-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.49282176A>T , CM000674.2:g.49282176A>T
GRCh38
NC_000012.11:g.49675959A>T , CM000674.1:g.49675959A>T
GRCh37
NC_000012.10:g.47962226A>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'