ClinGen Allele Registry
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Canonical Allele Identifier:
CA42602929
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.11897286C>T
GRCh37
chr2:g.12037412C>T
Linked Data - Sequence & Population
gnomAD v3:
2:11897286 C / T
gnomAD v4:
chr2-11897286-C-T
Joint Max Group AF
0.00001972 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Linked Data - NCBI & NCI
dbSNP:
776843023
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.11897286C>T , CM000664.2:g.11897286C>T
GRCh38
NC_000002.11:g.12037412C>T , CM000664.1:g.12037412C>T
GRCh37
NC_000002.10:g.11954863C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'