ClinGen Allele Registry
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Canonical Allele Identifier:
CA810619242
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.40401415G>C
GRCh37
chr5:g.40401517G>C
Linked Data - Sequence & Population
gnomAD v3:
5:40401415 G / C
gnomAD v4:
chr5-40401415-G-C
Joint Max Group AF
0.00000801 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1272529425
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40401415G>C , CM000667.2:g.40401415G>C
GRCh38
NC_000005.9:g.40401517G>C , CM000667.1:g.40401517G>C
GRCh37
NC_000005.8:g.40437274G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'