ClinGen Allele Registry
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Canonical Allele Identifier:
CA46683594
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.41853484T>A
GRCh37
chr2:g.42080624T>A
Linked Data - Sequence & Population
gnomAD v3:
2:41853484 T / A
gnomAD v4:
chr2-41853484-T-A
Joint Max Group AF
0.00001972 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Linked Data - NCBI & NCI
dbSNP:
4305317
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.41853484T>A , CM000664.2:g.41853484T>A
GRCh38
NC_000002.11:g.42080624T>A , CM000664.1:g.42080624T>A
GRCh37
NC_000002.10:g.41934128T>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'