ClinGen Allele Registry
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Canonical Allele Identifier:
CA117719051
Gene:
Linked Data
dbSNP Id:
rs112506057
gnomAD v2:
5-40486973-C-T
gnomAD v3:
5-40486871-C-T
gnomAD v4:
5-40486871-C-T
MyVariant Identifiers:
chr5:g.40486973C>T (hg19)
chr5:g.40486871C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40486871C>T , CM000667.2:g.40486871C>T
GRCh38
NC_000005.9:g.40486973C>T , CM000667.1:g.40486973C>T
GRCh37
NC_000005.8:g.40522730C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'