Allele Registry

Canonical Allele Identifier: PA2828421352

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000545542

RCV004024053

ClinVar Variation:

468126

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Thr1618Asn	CA394309184 NM_001370405.1:c.4853C>A