ClinGen Allele Registry
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Canonical Allele Identifier:
CA243673568
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.111818238C>T
GRCh37
chr12:g.112256042C>T
Linked Data - Sequence & Population
gnomAD v2:
12:112256042 C / T
gnomAD v3:
12:111818238 C / T
gnomAD v4:
chr12-111818238-C-T
Joint Max Group AF
0.82918374 (EAS)
Genomes Max Group AF
0.82918374 (EAS)
Linked Data - NCBI & NCI
dbSNP:
9971942
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.111818238C>T , CM000674.2:g.111818238C>T
GRCh38
NC_000012.11:g.112256042C>T , CM000674.1:g.112256042C>T
GRCh37
NC_000012.10:g.110740425C>T
NCBI36
NG_012250.2:g.56352C>T
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