ClinGen Allele Registry
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Canonical Allele Identifier:
CA237376723
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.53419219C>T
GRCh37
chr12:g.53813003C>T
Linked Data - Sequence & Population
gnomAD v2:
12:53813003 C / T
gnomAD v3:
12:53419219 C / T
gnomAD v4:
chr12-53419219-C-T
Joint Max Group AF
0.10405667 (NFE)
Genomes Max Group AF
0.10405667 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11170547
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.53419219C>T , CM000674.2:g.53419219C>T
GRCh38
NC_000012.11:g.53813003C>T , CM000674.1:g.53813003C>T
GRCh37
NC_000012.10:g.52099270C>T
NCBI36
NG_015981.1:g.365C>T
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