ClinGen Allele Registry
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Canonical Allele Identifier:
CA35046715
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.192462868T>C
GRCh37
chr1:g.192431998T>C
Linked Data - Sequence & Population
gnomAD v2:
1:192431998 T / C
gnomAD v3:
1:192462868 T / C
gnomAD v4:
chr1-192462868-T-C
Joint Max Group AF
0.37828901 (AFR)
Genomes Max Group AF
0.37828901 (AFR)
Linked Data - NCBI & NCI
dbSNP:
12067906
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.192462868T>C , CM000663.2:g.192462868T>C
GRCh38
NC_000001.10:g.192431998T>C , CM000663.1:g.192431998T>C
GRCh37
NC_000001.9:g.190698621T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'