ClinGen Allele Registry
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Canonical Allele Identifier:
CA113743256
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.8133581T>C
GRCh37
chr5:g.8133694T>C
Linked Data - Sequence & Population
gnomAD v2:
5:8133694 T / C
gnomAD v3:
5:8133581 T / C
gnomAD v4:
chr5-8133581-T-C
Joint Max Group AF
0.06051401 (NFE)
Genomes Max Group AF
0.06051401 (NFE)
Linked Data - NCBI & NCI
dbSNP:
2658161
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.8133581T>C , CM000667.2:g.8133581T>C
GRCh38
NC_000005.9:g.8133694T>C , CM000667.1:g.8133694T>C
GRCh37
NC_000005.8:g.8186694T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'