ClinGen Allele Registry
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Canonical Allele Identifier:
CA12760570
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.42695355C>T
GRCh37
chr8:g.42550498C>T
Linked Data - Sequence & Population
gnomAD v2:
8:42550498 C / T
gnomAD v3:
8:42695355 C / T
gnomAD v4:
chr8-42695355-C-T
Joint Max Group AF
0.78591551 (EAS)
Genomes Max Group AF
0.78591551 (EAS)
Linked Data - NCBI & NCI
dbSNP:
6474412
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.42695355C>T , CM000670.2:g.42695355C>T
GRCh38
NC_000008.10:g.42550498C>T , CM000670.1:g.42550498C>T
GRCh37
NC_000008.9:g.42669655C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'