ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12230345
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr6:g.30488143G>A
GRCh37
chr6:g.30455920G>A
Linked Data - Sequence & Population
gnomAD v2:
6:30455920 G / A
gnomAD v3:
6:30488143 G / A
gnomAD v4:
chr6-30488143-G-A
Joint Max Group AF
0.92890333 (EAS)
Genomes Max Group AF
0.92890333 (EAS)
Linked Data - NCBI & NCI
dbSNP:
1264459
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.30488143G>A , CM000668.2:g.30488143G>A
GRCh38
NC_000006.11:g.30455920G>A , CM000668.1:g.30455920G>A
GRCh37
NC_000006.10:g.30563899G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'