ClinGen Allele Registry
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Canonical Allele Identifier:
CA81671825
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.114127166T>A
GRCh37
chr3:g.113846013T>A
Linked Data - Sequence & Population
gnomAD v2:
3:113846013 T / A
gnomAD v3:
3:114127166 T / A
gnomAD v4:
chr3-114127166-T-A
Joint Max Group AF
0.55572149 (MID)
Genomes Max Group AF
0.53104021 (EAS)
Linked Data - NCBI & NCI
dbSNP:
2399496
2125146420
2125146421
2125146428
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.114127166T>A , CM000665.2:g.114127166T>A
GRCh38
NC_000003.11:g.113846013T>A , CM000665.1:g.113846013T>A
GRCh37
NC_000003.10:g.115328703T>A
NCBI36
NG_008842.2:g.77242A>T
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