ClinGen Allele Registry
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Canonical Allele Identifier:
CA21833206
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.45329108G>C
GRCh37
chr1:g.45794780G>C
Linked Data - Sequence & Population
gnomAD v4:
chr1-45329108-G-C
Joint Max Group AF
8e-7 (NFE)
Exomes Max Group AF
9.5e-7 (NFE)
Linked Data - NCBI & NCI
dbSNP:
975437258
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.45329108G>C , CM000663.2:g.45329108G>C
GRCh38
NC_000001.10:g.45794780G>C , CM000663.1:g.45794780G>C
GRCh37
NC_000001.9:g.45567367G>C
NCBI36
NG_008189.1:g.16363C>G , LRG_220:g.16363C>G
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