ClinGen Allele Registry
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Canonical Allele Identifier:
CA300040004
Gene:
Linked Data
dbSNP Id:
rs186405129
gnomAD v2:
18-47843440-T-C
gnomAD v3:
18-50317070-T-C
gnomAD v4:
18-50317070-T-C
MyVariant Identifiers:
chr18:g.47843440T>C (hg19)
chr18:g.50317070T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.50317070T>C , CM000680.2:g.50317070T>C
GRCh38
NC_000018.9:g.47843440T>C , CM000680.1:g.47843440T>C
GRCh37
NC_000018.8:g.46097438T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'