Allele Registry

Canonical Allele Identifier: PA165691

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000130092

RCV000530366

RCV004528853

ClinVar Variation:

141526

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ala753Thr	CA017108 NM_000548.5:c.2257G>A