ClinGen Allele Registry
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Canonical Allele Identifier:
CA27681500
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.100718258T>C
GRCh37
chr1:g.101183814T>C
Linked Data - Sequence & Population
gnomAD v2:
1:101183814 T / C
gnomAD v3:
1:100718258 T / C
gnomAD v4:
chr1-100718258-T-C
Joint Max Group AF
0.0003541 (NFE)
Genomes Max Group AF
0.0003541 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1032150819
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.100718258T>C , CM000663.2:g.100718258T>C
GRCh38
NC_000001.10:g.101183814T>C , CM000663.1:g.101183814T>C
GRCh37
NC_000001.9:g.100956402T>C
NCBI36
NG_023034.2:g.3518T>C
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