ClinGen Allele Registry
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Canonical Allele Identifier:
CA10700969
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.212700089C>T
GRCh37
chr1:g.212873431C>T
Linked Data - Sequence & Population
gnomAD v2:
1:212873431 C / T
gnomAD v3:
1:212700089 C / T
gnomAD v4:
chr1-212700089-C-T
Joint Max Group AF
0.24996656 (SAS)
Genomes Max Group AF
0.24911374 (SAS)
Exomes Max Group AF
0.21664237 (SAS)
Linked Data - NCBI & NCI
dbSNP:
2221593
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.212700089C>T , CM000663.2:g.212700089C>T
GRCh38
NC_000001.10:g.212873431C>T , CM000663.1:g.212873431C>T
GRCh37
NC_000001.9:g.210940054C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'