Allele Registry

Canonical Allele Identifier: PA2828420562

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000687287

RCV003163113

ClinVar Variation:

567263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Pro1401Leu	CA276753419 NM_001370405.1:c.4202C>T