ClinGen Allele Registry
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Canonical Allele Identifier:
CA2596278967
Gene:
Linked Data
dbSNP Id:
rs2137031543
gnomAD v3:
12-49282142-G-C
gnomAD v4:
12-49282142-G-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.49282142G>C , CM000674.2:g.49282142G>C
GRCh38
NC_000012.11:g.49675925G>C , CM000674.1:g.49675925G>C
GRCh37
NC_000012.10:g.47962192G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'