Allele Registry

Canonical Allele Identifier: PA2828093112

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000130015

RCV000189914

RCV000471098

RCV003477541

ClinVar Variation:

141472

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Pro1049Leu	CA018797 NM_001363528.2:c.3146C>T