ClinGen Allele Registry
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Canonical Allele Identifier:
CA576417316
Gene:
Linked Data
dbSNP Id:
rs1162320520
gnomAD v2:
7-99593252-C-T
gnomAD v3:
7-99995629-C-T
gnomAD v4:
7-99995629-C-T
COSMIC:
COSN23844430
MyVariant Identifiers:
chr7:g.99593252C>T (hg19)
chr7:g.99995629C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.99995629C>T , CM000669.2:g.99995629C>T
GRCh38
NC_000007.13:g.99593252C>T , CM000669.1:g.99593252C>T
GRCh37
NC_000007.12:g.99431188C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'