Allele Registry

Canonical Allele Identifier: PA658805081

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644129

RCV003338711

ClinVar Variation:

535904

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Thr1422Ile	CA050727 NM_000548.5:c.4265C>T