ClinGen Allele Registry
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Canonical Allele Identifier:
CA146796310
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.121061772T>C
GRCh38
chr6:g.121061772_121061776delinsCATAC
GRCh37
chr6:g.121382918T>C
GRCh37
chr6:g.121382918_121382922delinsCATAC
Linked Data - Sequence & Population
gnomAD v2:
6:121382918 T / C
gnomAD v3:
6:121061772 T / C
gnomAD v4:
chr6-121061772-T-C
Joint Max Group AF
0.40333597 (AFR)
Genomes Max Group AF
0.40333597 (AFR)
Linked Data - NCBI & NCI
dbSNP:
443076
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.121061772T>C , CM000668.2:g.121061772T>C
GRCh38
NC_000006.11:g.121382918T>C , CM000668.1:g.121382918T>C
GRCh37
NC_000006.10:g.121424617T>C
NCBI36
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