ClinGen Allele Registry
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Canonical Allele Identifier:
CA693282564
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.90382160C>A
GRCh37
chr12:g.90775937C>A
Linked Data - Sequence & Population
gnomAD v3:
12:90382160 C / A
gnomAD v4:
chr12-90382160-C-A
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
811
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.90382160C>A , CM000674.2:g.90382160C>A
GRCh38
NC_000012.11:g.90775937C>A , CM000674.1:g.90775937C>A
GRCh37
NC_000012.10:g.89300068C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'