ClinGen Allele Registry
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Canonical Allele Identifier:
CA10681187
Gene:
Linked Data - Expert Curation
COSMIC:
COSN6474356 (not active)
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr1:g.96648359T>G
GRCh37
chr1:g.97113915T>G
Linked Data - Sequence & Population
gnomAD v2:
1:97113915 T / G
gnomAD v3:
1:96648359 T / G
gnomAD v4:
chr1-96648359-T-G
Joint Max Group AF
0.46325595 (AFR)
Genomes Max Group AF
0.46325595 (AFR)
Linked Data - NCBI & NCI
dbSNP:
12071951
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.96648359T>G , CM000663.2:g.96648359T>G
GRCh38
NC_000001.10:g.97113915T>G , CM000663.1:g.97113915T>G
GRCh37
NC_000001.9:g.96886503T>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'