Allele Registry

Canonical Allele Identifier: PA2828419731

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000461845

RCV000570432

RCV001662421

RCV004000712

ClinVar Variation:

406069

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala1152Val	CA047499 NM_001370405.1:c.3455C>T