Allele Registry

Canonical Allele Identifier: PA2828420381

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000426687

RCV003626619

ClinVar Variation:

380381

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Pro1346Ser	CA16607165 NM_001370405.1:c.4036C>T