ClinGen Allele Registry
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Canonical Allele Identifier:
CA12405531
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr6:g.131947824C>T
GRCh37
chr6:g.132268964C>T
Linked Data - Sequence & Population
gnomAD v2:
6:132268964 C / T
gnomAD v3:
6:131947824 C / T
gnomAD v4:
chr6-131947824-C-T
Joint Max Group AF
0.42234312 (EAS)
Genomes Max Group AF
0.42234312 (EAS)
Linked Data - NCBI & NCI
dbSNP:
9399005
2113356174
2113356181
2113356183
2113356192
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.131947824C>T , CM000668.2:g.131947824C>T
GRCh38
NC_000006.11:g.132268964C>T , CM000668.1:g.132268964C>T
GRCh37
NC_000006.10:g.132310657C>T
NCBI36
NG_016131.1:g.8555G>A
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