ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA13644944
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.30220071T>C
GRCh37
chr12:g.30373004T>C
Linked Data - Sequence & Population
gnomAD v2:
12:30373004 T / C
gnomAD v3:
12:30220071 T / C
gnomAD v4:
chr12-30220071-T-C
Joint Max Group AF
0.89260276 (AFR)
Genomes Max Group AF
0.89260276 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1157480
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.30220071T>C , CM000674.2:g.30220071T>C
GRCh38
NC_000012.11:g.30373004T>C , CM000674.1:g.30373004T>C
GRCh37
NC_000012.10:g.30264271T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'