ClinGen Allele Registry
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Canonical Allele Identifier:
CA10660019
Gene:
Linked Data - Expert Curation
COSMIC:
COSN6504726 (not active)
COSN17484027 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.11854772G>A
GRCh37
chr1:g.11914829G>A
Linked Data - Sequence & Population
gnomAD v2:
1:11914829 G / A
gnomAD v3:
1:11854772 G / A
gnomAD v4:
chr1-11854772-G-A
Joint Max Group AF
0.29790226 (SAS)
Genomes Max Group AF
0.29790226 (SAS)
Linked Data - NCBI & NCI
dbSNP:
6668352
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.11854772G>A , CM000663.2:g.11854772G>A
GRCh38
NC_000001.10:g.11914829G>A , CM000663.1:g.11914829G>A
GRCh37
NC_000001.9:g.11837416G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'