Allele Registry

Canonical Allele Identifier: PA916023946

Gene: TSC2 HGNC NCBI

ClinVar Allele:

465291

ClinVar RCV:

RCV000552388

RCV001770442

RCV002456153

RCV003999272

ClinVar Variation:

467951

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Pro865Leu	CA394278313 NM_001318832.2:c.2594C>T