ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA945993318
Gene:
Linked Data
dbSNP Id:
rs1943486688
gnomAD v3:
12-28591611-T-C
gnomAD v4:
12-28591611-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28591611T>C , CM000674.2:g.28591611T>C
GRCh38
NC_000012.11:g.28744544T>C , CM000674.1:g.28744544T>C
GRCh37
NC_000012.10:g.28635811T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'