ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827012963
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406127
ClinVar RCV Id:
RCV000459822
RCV001584142
RCV002411436
RCV004000725
RCV004529591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser425Leu
CA034344
NM_001318831.2:c.1274C>T