ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828413128
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65283
ClinVar RCV Id:
RCV000055504
RCV000498705
RCV002298458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Leu1022Pro
CA018667
NM_001370404.1:c.3065T>C