ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1740470093
Gene:
Linked Data
dbSNP Id:
rs1795645732
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306284T>A , CM000669.2:g.124306284T>A
GRCh38
NC_000007.13:g.123946338T>A , CM000669.1:g.123946338T>A
GRCh37
NC_000007.12:g.123733574T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002956584.1:n.73-194T>A
Search 100 bp 5'
Search 100 bp 3'