ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA781034191
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr18:g.60373271A>C
GRCh37
chr18:g.58040504A>C
Linked Data - Sequence & Population
gnomAD v3:
18:60373271 A / C
gnomAD v4:
chr18-60373271-A-C
Joint Max Group AF
0.00003762 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1278665410
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60373271A>C , CM000680.2:g.60373271A>C
GRCh38
NC_000018.9:g.58040504A>C , CM000680.1:g.58040504A>C
GRCh37
NC_000018.8:g.56191484A>C
NCBI36
NG_016441.1:g.4498T>G
Search 100 bp 5'
Search 100 bp 3'