ClinGen Allele Registry
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Canonical Allele Identifier:
CA747163350
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.14472634T>C
GRCh37
chr21:g.15844955T>C
Linked Data - Sequence & Population
gnomAD v3:
21:14472634 T / C
gnomAD v4:
chr21-14472634-T-C
Linked Data - NCBI & NCI
dbSNP:
1273254543
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472634T>C , CM000683.2:g.14472634T>C
GRCh38
NC_000021.8:g.15844955T>C , CM000683.1:g.15844955T>C
GRCh37
NC_000021.7:g.14766826T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'