ClinGen Allele Registry
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Canonical Allele Identifier:
CA10975354
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.214781596T>C
GRCh37
chr1:g.214954939T>C
Linked Data - Sequence & Population
gnomAD v2:
1:214954939 T / C
gnomAD v3:
1:214781596 T / C
gnomAD v4:
chr1-214781596-T-C
Joint Max Group AF
0.77197666 (EAS)
Genomes Max Group AF
0.77197666 (EAS)
Linked Data - NCBI & NCI
dbSNP:
6695352
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.214781596T>C , CM000663.2:g.214781596T>C
GRCh38
NC_000001.10:g.214954939T>C , CM000663.1:g.214954939T>C
GRCh37
NC_000001.9:g.213021562T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'