Allele Registry

Canonical Allele Identifier: PA2828411040

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000163295

RCV000189884

RCV000726305

RCV001081464

RCV001120921

RCV004544488

ClinVar Variation:

184138

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ala415Val	CA014143 NM_001370404.1:c.1244C>T