ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA300063363
Gene:
Linked Data
dbSNP Id:
rs584087
gnomAD v2:
18-48392550-C-T
gnomAD v3:
18-50866180-C-T
gnomAD v4:
18-50866180-C-T
MyVariant Identifiers:
chr18:g.48392550C>T (hg19)
chr18:g.50866180C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.50866180C>T , CM000680.2:g.50866180C>T
GRCh38
NC_000018.9:g.48392550C>T , CM000680.1:g.48392550C>T
GRCh37
NC_000018.8:g.46646548C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'