Allele Registry

Canonical Allele Identifier: PA645433160

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000468858

RCV000575419

RCV001567190

ClinVar Variation:

405953

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1098Leu	CA045588 NM_000548.5:c.3293C>T