ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA649878366
Gene:
Linked Data - Expert Curation
CIViC:
CA649878366
COSMIC:
COSN504628
COSN504629
COSN504630
COSN504631
COSN504633
COSN504704
COSN504705
COSN504706
COSN504707
COSN504708
COSN504709
COSN504710
COSN504711
COSN504712
COSN504713
COSN504714
COSN504715
COSN504716
COSN504717
COSN504718
COSN504719
COSN504720
COSN504721
COSN504722
COSN504723
COSN504724
COSN504725
COSN504726
COSN504727
COSN504728
COSN504729
COSN504730
COSN504731
COSN504732
COSN504733
COSN504734
COSN504735
COSN504736
COSN504737
COSN504738
COSN504739
COSN504740
COSN504741
COSN504742
COSN504743
COSN504744
COSN504745
COSN504746
COSN504747
COSN504748
COSN504749
COSN504750
COSN504751
COSN504752
COSN504753
COSN504754
COSN504755
COSN504756
COSN504757
COSN504758
COSN504759
COSN504760
COSN504761
COSN504762
COSN504763
COSN504764
COSN504765
COSN504774
COSN504775
COSN1307079
COSN1307080
COSN1307081
COSN1307082
COSN5068978
COSN5068979
COSN5068980
COSN5068981
COSN5068982
COSN5068983
COSN16303218
COSN16517805
COSN16517819
COSN16517886
COSN16517936
COSN17430186
COSN18720884
COSN18720885
COSN18720886
COSN18720887
COSN18720888
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.47
Score
1.42
Score
1.65
Score
2.42
Linked Data - Sequence & Population
gnomAD v4:
chr5-1295135-G-A
Joint Max Group AF
0.00001958 (NFE)
Exomes Max Group AF
0.00002627 (NFE)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003322642
ClinVar Variation:
2443072
dbSNP:
1561215364
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1295135G>A , CM000667.2:g.1295135G>A
GRCh38
NC_000005.9:g.1295250G>A , CM000667.1:g.1295250G>A
GRCh37
NC_000005.8:g.1348250G>A
NCBI36
NG_009265.1:g.4913C>T , LRG_343:g.4913C>T
Search 100 bp 5'
Search 100 bp 3'