Allele Registry

Canonical Allele Identifier: PA2828414370

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000357832

RCV000461781

RCV000575927

RCV001548444

ClinVar Variation:

318330

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ala1385Val	CA050774 NM_001370404.1:c.4154C>T