Allele Registry

Canonical Allele Identifier: PA645433876

Gene: TSC2 HGNC NCBI

ClinVar Allele:

374827

ClinVar RCV:

RCV000426687

RCV003626619

ClinVar Variation:

380381

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1389Ser	CA16607165 NM_000548.5:c.4165C>T