Allele Registry

Canonical Allele Identifier: PA2827009468

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000687287

RCV003163113

ClinVar Variation:

567263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro1329Leu	CA276753419 NM_001318829.2:c.3986C>T