Allele Registry

Canonical Allele Identifier: PA2828418984

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000562822

RCV001049308

RCV004001145

ClinVar Variation:

486602

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Thr927Ile	CA394279934 NM_001370405.1:c.2780C>T