ClinGen Allele Registry
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Canonical Allele Identifier:
CA636037264
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.46007343T>C
GRCh37
chr20:g.44635982T>C
Linked Data - Sequence & Population
gnomAD v2:
20:44635982 T / C
gnomAD v3:
20:46007343 T / C
gnomAD v4:
chr20-46007343-T-C
Joint Max Group AF
0.00000801 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1486818309
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46007343T>C , CM000682.2:g.46007343T>C
GRCh38
NC_000020.10:g.44635982T>C , CM000682.1:g.44635982T>C
GRCh37
NC_000020.9:g.44069389T>C
NCBI36
NG_011468.1:g.3436T>C
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