Allele Registry

Canonical Allele Identifier: PA645432501

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000307485

RCV000687605

RCV002450875

RCV002487404

RCV003469253

ClinVar Variation:

318322

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Cys791Phe	CA038816 NM_000548.5:c.2372G>T