Allele Registry

Canonical Allele Identifier: PA2828413723

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000964609

RCV001020951

RCV001703809

RCV003235210

RCV004533019

ClinVar Variation:

383442

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ala1193Val	CA048133 NM_001370404.1:c.3578C>T