ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA947443129
Gene:
Linked Data
dbSNP Id:
rs1943079243
gnomAD v3:
12-49282219-C-T
gnomAD v4:
12-49282219-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.49282219C>T , CM000674.2:g.49282219C>T
GRCh38
NC_000012.11:g.49676002C>T , CM000674.1:g.49676002C>T
GRCh37
NC_000012.10:g.47962269C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'