Allele Registry

Canonical Allele Identifier: PA2828413475

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000520176

RCV001020414

RCV001085805

RCV004003619

ClinVar Variation:

450949

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Pro1118Leu	CA047132 NM_001370404.1:c.3353C>T