Allele Registry

Canonical Allele Identifier: PA2827004376

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000687287

RCV003163113

ClinVar Variation:

567263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Pro1341Leu	CA276753419 NM_001318827.2:c.4022C>T