ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA49052400
Gene: REL-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs970948625
gnomAD v2:
2-61091994-C-T
gnomAD v3:
2-60864859-C-T
gnomAD v4:
2-60864859-C-T
MyVariant Identifiers:
chr2:g.61091994C>T (hg19)
chr2:g.60864859C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.60864859C>T , CM000664.2:g.60864859C>T
GRCh38
NC_000002.11:g.61091994C>T , CM000664.1:g.61091994C>T
GRCh37
NC_000002.10:g.60945498C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_033980.1:n.84-7939G>A
Search 100 bp 5'
Search 100 bp 3'