ClinGen Allele Registry
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Canonical Allele Identifier:
CA127733872
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.130456441C>T
GRCh37
chr5:g.129792134C>T
Linked Data - Sequence & Population
gnomAD v2:
5:129792134 C / T
gnomAD v3:
5:130456441 C / T
gnomAD v4:
chr5-130456441-C-T
Joint Max Group AF
0.5723265 (NFE)
Genomes Max Group AF
0.5723265 (NFE)
Linked Data - NCBI & NCI
dbSNP:
6894216
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.130456441C>T , CM000667.2:g.130456441C>T
GRCh38
NC_000005.9:g.129792134C>T , CM000667.1:g.129792134C>T
GRCh37
NC_000005.8:g.129820033C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'