Allele Registry

Canonical Allele Identifier: PA658659380

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000558142

RCV002404457

RCV003999193

ClinVar Variation:

466037

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Pro56Ser	CA375375112 NM_000368.5:c.166C>T