ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA833583455
Gene:
Linked Data
dbSNP Id:
rs1425729755
MyVariant Identifiers:
chr7:g.13440248A>G (hg19)
chr7:g.13400623A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13400623A>G , CM000669.2:g.13400623A>G
GRCh38
NC_000007.13:g.13440248A>G , CM000669.1:g.13440248A>G
GRCh37
NC_000007.12:g.13406773A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745097.1:n.147+90300A>G
Search 100 bp 5'
Search 100 bp 3'