ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA244112178
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.114266710G>A
GRCh37
chr12:g.114704515G>A
Linked Data - Sequence & Population
gnomAD v2:
12:114704515 G / A
gnomAD v3:
12:114266710 G / A
gnomAD v4:
chr12-114266710-G-A
Joint Max Group AF
0.00006268 (AFR)
Genomes Max Group AF
0.00006268 (AFR)
Linked Data - NCBI & NCI
dbSNP:
141875471
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.114266710G>A , CM000674.2:g.114266710G>A
GRCh38
NC_000012.11:g.114704515G>A , CM000674.1:g.114704515G>A
GRCh37
NC_000012.10:g.113188898G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'