Allele Registry

Canonical Allele Identifier: PA2825576468

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000687287

RCV003163113

ClinVar Variation:

567263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Pro1421Leu	CA276753419 NM_001114382.3:c.4262C>T