ClinGen Allele Registry
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Canonical Allele Identifier:
CA12186791
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.30446195G>C
GRCh37
chr6:g.30413972G>C
Linked Data - Sequence & Population
gnomAD v2:
6:30413972 G / C
gnomAD v3:
6:30446195 G / C
gnomAD v4:
chr6-30446195-G-C
Joint Max Group AF
0.77958848 (EAS)
Genomes Max Group AF
0.77958848 (EAS)
Linked Data - NCBI & NCI
dbSNP:
1264511
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.30446195G>C , CM000668.2:g.30446195G>C
GRCh38
NC_000006.11:g.30413972G>C , CM000668.1:g.30413972G>C
GRCh37
NC_000006.10:g.30521951G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'