ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825185680
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1483061
ClinVar RCV Id:
RCV002025337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu1212Met
CA394291753
NM_000548.5:c.3634C>A