ClinGen Allele Registry
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Canonical Allele Identifier:
CA29080757
Gene:
Linked Data - Expert Curation
COSMIC:
COSN6503848 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.115029744A>G
GRCh37
chr1:g.115572365A>G
Linked Data - Sequence & Population
gnomAD v2:
1:115572365 A / G
gnomAD v3:
1:115029744 A / G
gnomAD v4:
chr1-115029744-A-G
Joint Max Group AF
0.49532153 (NFE)
Genomes Max Group AF
0.49530671 (NFE)
Exomes Max Group AF
0.17768 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1321108
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.115029744A>G , CM000663.2:g.115029744A>G
GRCh38
NC_000001.10:g.115572365A>G , CM000663.1:g.115572365A>G
GRCh37
NC_000001.9:g.115373888A>G
NCBI36
NG_015891.1:g.4951A>G
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