Allele Registry

Canonical Allele Identifier: PA165538

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000130015

RCV000189914

RCV000471098

RCV003477541

ClinVar Variation:

141472

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1092Leu	CA018797 NM_000548.5:c.3275C>T