ClinGen Allele Registry
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Canonical Allele Identifier:
CA11139904
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.228777706G>A
GRCh37
chr2:g.229642422G>A
Linked Data - Sequence & Population
gnomAD v2:
2:229642422 G / A
gnomAD v3:
2:228777706 G / A
gnomAD v4:
chr2-228777706-G-A
Joint Max Group AF
0.24298194 (NFE)
Genomes Max Group AF
0.24298194 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11679180
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.228777706G>A , CM000664.2:g.228777706G>A
GRCh38
NC_000002.11:g.229642422G>A , CM000664.1:g.229642422G>A
GRCh37
NC_000002.10:g.229350666G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'