ClinGen Allele Registry
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Canonical Allele Identifier:
CA10809740
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.80012195T>C
GRCh37
chr1:g.80477880T>C
Linked Data - Sequence & Population
gnomAD v2:
1:80477880 T / C
gnomAD v3:
1:80012195 T / C
gnomAD v4:
chr1-80012195-T-C
Joint Max Group AF
0.39148865 (SAS)
Genomes Max Group AF
0.39148865 (SAS)
Linked Data - NCBI & NCI
dbSNP:
10493631
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.80012195T>C , CM000663.2:g.80012195T>C
GRCh38
NC_000001.10:g.80477880T>C , CM000663.1:g.80477880T>C
GRCh37
NC_000001.9:g.80250468T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'