ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA317824455
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.14472743G>C
GRCh37
chr21:g.15845064G>C
Linked Data - Sequence & Population
gnomAD v3:
21:14472743 G / C
gnomAD v4:
chr21-14472743-G-C
Linked Data - NCBI & NCI
dbSNP:
529751991
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472743G>C , CM000683.2:g.14472743G>C
GRCh38
NC_000021.8:g.15845064G>C , CM000683.1:g.15845064G>C
GRCh37
NC_000021.7:g.14766935G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'