ClinGen Allele Registry
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Canonical Allele Identifier:
CA116349006
Gene:
Linked Data - Expert Curation
COSMIC:
COSN8223018 (not active)
COSN24716852 (not active)
COSN24761460 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.28339913T>A
GRCh38
chr5:g.28339913_28339915delinsACA
GRCh37
chr5:g.28340020T>A
GRCh37
chr5:g.28340020_28340022delinsACA
Linked Data - Sequence & Population
gnomAD v2:
5:28340020 T / A
gnomAD v3:
5:28339913 T / A
gnomAD v4:
chr5-28339913-T-A
Joint Max Group AF
0.00006666 (NFE)
Genomes Max Group AF
0.00006666 (NFE)
Linked Data - NCBI & NCI
dbSNP:
74462253
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28339913T>A , CM000667.2:g.28339913T>A
GRCh38
NC_000005.9:g.28340020T>A , CM000667.1:g.28340020T>A
GRCh37
NC_000005.8:g.28375777T>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'