ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828090989
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65257
ClinVar RCV Id:
RCV000055478
RCV000475576
RCV001010823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ser433Cys
CA014387
NM_001363528.2:c.1298C>G