Allele Registry

Canonical Allele Identifier: PA2828420717

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000470481

RCV000517116

RCV000562149

RCV004000719

ClinVar Variation:

406105

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala1443Val	CA051222 NM_001370405.1:c.4328C>T