ClinGen Allele Registry
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Canonical Allele Identifier:
CA11992446
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.180743819C>T
GRCh37
chr5:g.180170819C>T
Linked Data - Sequence & Population
gnomAD v2:
5:180170819 C / T
gnomAD v3:
5:180743819 C / T
gnomAD v4:
chr5-180743819-C-T
Joint Max Group AF
0.15378814 (NFE)
Genomes Max Group AF
0.15378814 (NFE)
Linked Data - NCBI & NCI
dbSNP:
12517906
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.180743819C>T , CM000667.2:g.180743819C>T
GRCh38
NC_000005.9:g.180170819C>T , CM000667.1:g.180170819C>T
GRCh37
NC_000005.8:g.180103425C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'